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Results for the Protein: P06213
308153655

INSR_HUMAN RecName: Full=Insulin receptor; Short=IR; AltName: CD_antigen=CD220; Contains: RecName: Full=Insulin receptor subunit alpha; Contains: RecName: Full=Insulin receptor subunit beta; Flags: Precursor

Known Diseases associated with this Protein:
  DIABETES MELLITUS, INSULIN-RESISTANT
  DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
  DIABETES MELLITUS, NON-INSULIN-DEPENDENT (NIDDM)
  DIABETES MELLITUS, NONINSULIN-DEPENDENT
  DONOHUE SYNDROME
  HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
  INSULIN RESISTANCE
  INSULIN RESISTANCE, INCLUDED
  INSULIN-RESISTANT DIABETES MELLITUS WITH ACANTHOSIS NIGRICANS TYPE A (IRAN TYPE A)
  LEPRECHAUNISM (LEPRCH)
  RABSON-MENDENHALL SYNDROME
  RABSON-MENDENHALL SYNDROME (RMS)
78
16
29
0
65
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Recep_L_domain - pfam01030
Furin-like - pfam00757
FU - smart00261
FU - cd00064
FN3 - cd00063
FN3 - smart00060
PTKc_CSF-1R - cd05106
PTKc_Kit - cd05104
PTKc_PDGFR_alpha - cd05105
PTKc_PDGFR_beta - cd05107
PTKc_PDGFR - cd05055
STKc_PAK1 - cd06654
STKc_PAK3 - cd06656
STKc_PAK_I - cd06647
STKc_PAK6 - cd06659
STKc_TAO1 - cd06635
STKc_PAK4 - cd06657
STKc_PAK5 - cd06658
STKc_PAK_II - cd06648
STKc_TAO2 - cd06634
STKc_p38 - cd07851
STKc_myosinIIIA - cd06638
PTKc_FGFR1 - cd05098
PTKc_FGFR2 - cd05101
PTKc_FGFR4 - cd05099
PTKc_EGFR - cd05108
PTKc_HER4 - cd05110
PTKc_FGFR - cd05053
PTKc_Tie2 - cd05088
STKc_STK10_LOK - cd06644
PTKc_FGFR3 - cd05100
STKc_ASK - cd06624
STKc_MEKK3_like - cd06625
STKc_PAK - cd06614
PKc_MKK7 - cd06618
STKc_PAK2 - cd06655
STKc_MAPK15 - cd07852
PTKc_VEGFR - cd05054
PTKc_VEGFR2 - cd05103
STKc_TAO - cd06607
PTKc_VEGFR3 - cd05102
PTKc_HER2 - cd05109
PTKc_Fyn_Yrk - cd05070
PTKc_InsR - cd05061
PTKc_Srm_Brk - cd05148
STKc_TEY_MAPK_plant - cd07858
PTKc_Chk - cd05083
STKc_ERK5 - cd07855
STKc_ERK1_2_like - cd07849
STKc_CDK12 - cd07864
PTKc_Csk - cd05082
PTKc_InsR_like - cd05032
PTKc_Abl - cd05052
PTKc_Csk_like - cd05039
PTKc_Src_like - cd05034
PTKc_ALK_LTK - cd05036
PTKc_IGF-1R - cd05062
PTKc_FAK - cd05056
PTKc_Lyn - cd05072
PTKc_Lck_Blk - cd05067
PTKc_Src - cd05071
PTKc_Hck - cd05073
PTKc_Yes - cd05069
PTKc_Frk_like - cd05068
PTKc_TrkB - cd05093
PTKc_DDR_like - cd05097
PKc_MAPKK_Byr1_like - cd06620
STKc_MAP4K5 - cd06646
PTKc_DDR1 - cd05096
STKc_MAP4K3 - cd06645
STKc_SLK - cd06643
PTKc_Ror2 - cd05091
PTKc_DDR - cd05051
PTKc_EphR_A2 - cd05063
PTKc_Musk - cd05050
PTKc_Trk - cd05049
PTK_CCK4 - cd05046
PTKc_DDR2 - cd05095
PTKc_EphR_B - cd05065
PTKc_TrkA - cd05092
PTKc_TrkC - cd05094
PTKc_EphR_A10 - cd05064
PTKc_Ror1 - cd05090
PTKc_Ror - cd05048
STKc_CDK10 - cd07845
PTKc_Tec_Rlk - cd05114
STKc_BUR1 - cd07866
PTKc_Jak2_Jak3_rpt2 - cd05081
PTKc_Jak_rpt2 - cd05038
PTKc_EphR - cd05033
PTKc_EphR_A - cd05066
PTK_Ryk - cd05043
PTKc_Btk_Bmx - cd05113
PTKc_Itk - cd05112
PTK_HER3 - cd05111
PTKc_Tec_like - cd05059
STKc_PFTAIRE2 - cd07870
STKc_PCTAIRE_like - cd07844
STKc_STK25-YSK1 - cd06642
PKc_MKK4 - cd06616
PTKc_EGFR_like - cd05057
STKc_MAP4K3_like - cd06613
STKc_MST4 - cd06640
STKc_MST3 - cd06641
STKc_TNIK - cd06637
STKc_MEKK3_like_1 - cd06653
STKc_Nek6_Nek7 - cd08224
STKc_MST1_2 - cd06612
STKc_SLK_like - cd06611
STKc_MEKK2 - cd06652
STKc_CDKL2_3 - cd07846
STKc_CDKL1_4 - cd07847
STKc_CDKL - cd07833
STKc_CDK6 - cd07862
STKc_Nek6 - cd08228
SPS1 - COG0515
STKc_Nek7 - cd08229
STKc_MST3_like - cd06609
STKc_CdkB_plant - cd07837
STKc_OSR1_SPAK - cd06610
STKc_ROCK_NDR_like - cd05573
STKc_PKA - cd05580
PTKc_Tie1 - cd05089
PTKc_Jak1_rpt2 - cd05079
STKc_MAST - cd05609
STKc_PRKX_like - cd05612
PKc_MAPKK_plant_like - cd06623
PKc_MAPKK_Pek1_like - cd06621
PKc_MAPKK - cd06605
PKc_MAPKK_PBS2_like - cd06622
PKc_MKK3_6 - cd06617
PKc_MEK - cd06615
STKc_myosinIII_like - cd06608
STKc_Nek8 - cd08220
STKc_Nek3 - cd08219
STKc_CDK1_euk - cd07861
STKc_Nek2 - cd08217
STKc_CDK4 - cd07863
STKc_Nek - cd08215
STKc_Nek4 - cd08223
STKc_CNK2-like - cd08530
STKc_NLK - cd07853
STKc_Nek10 - cd08528
STKc_Nek5 - cd08225
STKc_Nek11 - cd08222
STKc_Nek9 - cd08221
STKc_Nek1 - cd08218
PTKc_RET - cd05045
STKc_GRK5 - cd05632
STKc_GRK4 - cd05631
PKc_STE - cd05122
STKc_CDK2_3 - cd07860
STKc_GRK6 - cd05630
STKc_GRK4_like - cd05605
STKc_cPKC - cd05587
STKc_Cdc7_like - cd06627
STKc_MAPKKK - cd06606
STKc_Pho85 - cd07836
STKc_CDK7 - cd07841
STKc_CDK5 - cd07839
STKc_MPK1 - cd07857
STKc_MAPK - cd07834
STKc_MEKK3 - cd06651
STKc_MAPKKK_Byr2_lik - cd06628
STKc_CCRK - cd07832
TyrKc - smart00219
Pkinase - pfam00069
STYKc - smart00221
Pkinase_Tyr - pfam07714
PTKc_Tyk2_rpt2 - cd05080
STKc_PKN - cd05589
PTKc_Axl - cd05075
PTKc_Tyro3 - cd05074
PTKc_Axl_like - cd05035
STKc_CDK1_like - cd07835
STKc_CMGC - cd05118
PK_STRAD - cd08216
STKc_CDK_like - cd07829
STKc_NAK1_like - cd06917
STKc_Yank1 - cd05578
STKc_MAK_like - cd07830
STKc_CRIK - cd05601
STKc_CDK9_like - cd07840
STKc_FA2-like - cd08529
STKc_CDK4_6_like - cd07838
STKc_MOK - cd07831
STKc_PDK1 - cd05581
STKc_MEKK4 - cd06626
STKc_MAPK4_6 - cd07854
STKc_RSK_N - cd05582
STKc_nPKC_theta - cd05619
STKc_nPKC_theta_delt - cd05592
STKc_nPKC_epsilon - cd05591
STKc_PKB_gamma - cd05593
STKc_MEKK1 - cd06630
PTKc - cd00192
PTKc_Ack_like - cd05040
STKc_PKB - cd05571
STKc_MEKK1_plant - cd06632
PTKc_Met_Ron - cd05058
PTK_Jak_rpt1 - cd05037
PTKc_c-ros - cd05044
PTKc_Syk_like - cd05060
STKc_nPKC_eta - cd05590
PTK_Jak1_rpt1 - cd05077
PTK_Jak2_Jak3_rpt1 - cd05078
PTK_Tyk2_rpt1 - cd05076
PTKc_Aatyk - cd05042
PTKc_Fes_like - cd05041
PTKc_Aatyk1_Aatyk3 - cd05087
PTKc_Syk - cd05116
STKc_PKC - cd05570
PTKc_Aatyk2 - cd05086
PTKc_Fes - cd05084
STKc_MAPKKK_Bck1_lik - cd06629
PTKc_Zap-70 - cd05115
STKc_YSK4 - cd06631
STKc_MAST_like - cd05579
PTKc_Fer - cd05085
PTKc_Tie - cd05047
PKc - cd00180
STKc_AGC - cd05123
STKc_cGK_PKG - cd05572
STKc_GRK7 - cd05607
STKc_GRK1 - cd05608
STKc_beta_ARK - cd05606
STKc_GRK - cd05577
S_TKc - smart00220


Swiss-Prot Protein: P06213
Identical to: NP_000199
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FUcd000643.6e-15234281
FN3cd000637.5e-09850944
PTKc_CSF-1Rcd051061e-389891295
PTKc_Kitcd051041.2e-299901294
PTKc_PDGFR_alphacd051051.6e-189911297
PTKc_PDGFRcd050557.5e-259921294
PTKc_PDGFR_betacd051077.4e-149921295
STKc_PAK1cd066541.3e-059951312
STKc_PAK_Icd066470.000179961313
STKc_PAK3cd066561.4e-059961315
STKc_PAK6cd066592e-0610011311
STKc_TAO1cd066350.0004410021330
STKc_PAK4cd066570.000410021325
STKc_PAK5cd066580.0004710021305
STKc_PAK_IIcd066481.1e-0610031302
STKc_TAO2cd066342.1e-0510041331
STKc_myosinIIIAcd066381e-0510061295
STKc_p38cd078512.7e-0510061353
PTKc_FGFR1cd050981.9e-6310081300
PTKc_FGFR2cd051011.6e-6110091301
PTKc_FGFRcd050538e-8310101295
PTKc_FGFR4cd050994.2e-6510101313
PTKc_EGFRcd051089e-3310101337
PTKc_HER4cd051102.3e-3110101323
PTKc_Tie2cd050887.6e-4010111316
STKc_STK10_LOKcd066449.9e-0710111317
PTKc_FGFR3cd051006.3e-5610121323
STKc_ASKcd066242.9e-0910121295
STKc_PAKcd066142.6e-1110131302
STKc_MEKK3_likecd066254.7e-0910131292
PKc_MKK7cd066187.1e-0710141309
STKc_PAK2cd066553.5e-0510141316
PTKc_VEGFRcd050543.4e-3910151297
PTKc_VEGFR2cd051032.6e-3810151297
PTKc_VEGFR3cd051022.6e-4810151297
STKc_TAOcd066070.0003910151330
STKc_MAPK15cd078523.8e-0510151340
PTKc_InsR_likecd050324.3e-22610161292
PTKc_Src_likecd050341.5e-6710161293
PTKc_ALK_LTKcd050365e-10910161292
PTKc_Csk_likecd050399.5e-4610161290
PTKc_Ablcd050522.8e-6910161294
PTKc_FAKcd050561.2e-7810161298
PTKc_IGF-1Rcd050628.8e-21610161292
PTKc_Lck_Blkcd050673.1e-5710161293
PTKc_Frk_likecd050681.9e-7410161293
PTKc_Yescd050691.4e-5210161293
PTKc_Srccd050713.4e-5010161295
PTKc_Lyncd050721.2e-5910161293
PTKc_Hckcd050738.6e-5710161293
PTKc_Cskcd050827.7e-5910161293
PTKc_Chkcd050831.1e-5810161293
PTKc_InsRcd050611.9e-25110161303
PTKc_Fyn_Yrkcd050709.2e-5210161293
PTKc_HER2cd051091.3e-4210161303
PTKc_Srm_Brkcd051481.5e-5910161297
STKc_ERK1_2_likecd078490.000310161326
STKc_ERK5cd078550.0002710161324
STKc_TEY_MAPK_plantcd078580.000210161363
STKc_CDK12cd078641.9e-0710161317
PTK_CCK4cd050465.5e-6110171292
PTKc_Trkcd050491.3e-10110171292
PTKc_Muskcd050504.6e-10010171292
PTKc_DDRcd050511.3e-6910171292
PTKc_EphR_A2cd050634.5e-6710171294
PTKc_EphR_Bcd050657.4e-5710171294
PTKc_EphR_A10cd050641.4e-5710171294
PTKc_Rorcd050481e-7910171293
PTKc_Ror1cd050901.6e-6110171293
PTKc_Ror2cd050911.5e-5810171293
PTKc_TrkAcd050923.5e-8810171300
PTKc_TrkCcd050942.3e-5710171300
PTKc_DDR2cd050951.4e-6810171292
PTKc_DDR1cd050963.7e-5610171292
PTKc_TrkBcd050935.1e-8110171302
PTKc_DDR_likecd050971.8e-6610171292
PKc_MAPKK_Byr1_likecd066205e-0510171299
STKc_SLKcd066431.9e-0610171311
STKc_MAP4K5cd066465.8e-0610171291
STKc_MAP4K3cd066456.2e-0610171294
PTKc_EphRcd050331.2e-7610181294
PTKc_Jak_rpt2cd050381.6e-5310181295
PTK_Rykcd050435.3e-3610181294
PTKc_Tec_likecd050594.8e-5310181291
PTKc_EphR_Acd050662e-6210181295
PTKc_Jak2_Jak3_rpt2cd050817.5e-3510181295
PTK_HER3cd051115.8e-2710181302
PTKc_Itkcd051124.6e-6010181291
PTKc_Btk_Bmxcd051134.3e-6510181291
PTKc_Tec_Rlkcd051147.5e-6010181291
STKc_CDK10cd078454e-0810181299
STKc_BUR1cd078665.7e-0610181298
PTKc_EGFR_likecd050579.9e-4910191302
PKc_MKK4cd066169.4e-0610191308
STKc_MAP4K3_likecd066132.3e-1010191294
STKc_MST4cd066405.4e-0710191310
STKc_MST3cd066419.8e-0710191310
STKc_STK25-YSK1cd066423.6e-0810191313
STKc_TNIKcd066370.0008110191298
STKc_PCTAIRE_likecd078440.0001310191322
STKc_PFTAIRE2cd078700.0005510191328
STKc_SLK_likecd066111.5e-0610201320
STKc_MST1_2cd066121.5e-0810201284
STKc_MEKK2cd066520.0004810201295
STKc_MEKK3_like_1cd066538.4e-0510201292
STKc_Nek6_Nek7cd082246.5e-0710201295
PTKc_Jak1_rpt2cd050792.3e-3110211294
PTKc_Tie1cd050892.3e-3710211313
STKc_ROCK_NDR_likecd055733.8e-0510211364
STKc_PKAcd055800.0002710211324
STKc_MASTcd056094.1e-0510211350
STKc_PRKX_likecd056123.3e-0510211325
PKc_MAPKKcd066054.1e-0510211288
STKc_myosinIII_likecd066081e-0610211290
STKc_OSR1_SPAKcd066104.1e-0910211298
PKc_MEKcd066150.0002410211311
PKc_MKK3_6cd066177.3e-0810211310
PKc_MAPKK_Pek1_likecd066211.8e-0510211294
PKc_MAPKK_PBS2_likecd066225.3e-0610211332
PKc_MAPKK_plant_likecd066234.6e-1110211288
STKc_MST3_likecd066094.8e-1010211302
STKc_CDKLcd078330.0005210211298
STKc_CDKL1_4cd078472e-0510211327
STKc_CDKL2_3cd078460.000110211295
STKc_CDK6cd078621.4e-0510211322
STKc_CdkB_plantcd078377.3e-0810211299
STKc_Nek6cd082283.6e-0510211296
STKc_Nek7cd082292.1e-0610211296
SPS1COG05153.7e-1810211382
PTKc_RETcd050451.7e-6410221297
PKc_STEcd051227.4e-1310221294
STKc_cPKCcd055871.6e-0510221365
STKc_GRK4_likecd056051.4e-0710221325
STKc_GRK6cd056303.2e-0510221325
STKc_GRK5cd056321e-0510221317
STKc_GRK4cd056313.9e-0610221314
STKc_MAPKKKcd066064.5e-1910221284
STKc_Cdc7_likecd066274.3e-1110221284
STKc_MEKK3cd066516.6e-0710221294
STKc_MAPKKK_Byr2_likcd066286.6e-0810221295
STKc_CCRKcd078321.1e-0810221299
STKc_MAPKcd078346.8e-0810221324
STKc_Pho85cd078361.2e-0510221322
STKc_CDK7cd078411.4e-0710221296
STKc_CDK5cd078391.7e-0510221322
STKc_MPK1cd078574.3e-0510221327
STKc_CDK2_3cd078600.000110221322
STKc_NLKcd078530.0005410221354
STKc_CDK1_eukcd078610.0003310221322
STKc_CDK4cd078634.4e-0610221322
STKc_Nekcd082157.2e-1410221292
STKc_Nek1cd082186.9e-0610221290
STKc_Nek3cd082198.3e-0910221289
STKc_Nek8cd082203.4e-0510221295
STKc_Nek2cd082171.9e-0910221292
STKc_Nek9cd082214.3e-0610221291
STKc_Nek11cd082221.7e-0610221295
STKc_Nek4cd082232.1e-0510221294
STKc_Nek5cd082254.8e-0510221295
STKc_Nek10cd085284.5e-0710221292
STKc_CNK2-likecd085301.3e-0810221290
PTKc_Axl_likecd050352.5e-8210231294
PTKc_Tyro3cd050741.6e-7310231294
PTKc_Axlcd050751.6e-6710231294
PTKc_Tyk2_rpt2cd050805.8e-2810231295
STKc_PKNcd055896.3e-0510231345
STKc_CDK1_likecd078352e-0610231321
STKc_CMGCcd051187.1e-0910241298
STKc_Yank1cd055784.4e-0610241298
STKc_NAK1_likecd069173.3e-0510241291
STKc_CDK_likecd078291.6e-1110241298
STKc_MAK_likecd078305.5e-0910241284
PK_STRADcd082160.00110241296
STKc_PDK1cd055818e-1210251304
STKc_CRIKcd056010.0008810251354
STKc_MEKK4cd066266.2e-0610251295
STKc_MOKcd078314.1e-0610251298
STKc_CDK4_6_likecd078389.9e-0910251284
STKc_CDK9_likecd078403.6e-0610251283
STKc_FA2-likecd085295.2e-1110251298
STKc_RSK_Ncd055821.4e-0510261358
STKc_MAPK4_6cd078540.0004410261340
PTKccd001922.9e-14710271291
PTKc_Ack_likecd050403.4e-5710271292
PTKc_Fes_likecd050413e-6210271292
PTKc_Aatykcd050421.1e-4010271292
PTKc_c-roscd050448.2e-11210271292
PTK_Jak_rpt1cd050371e-1110271291
PTKc_Met_Roncd050581.4e-7610271296
PTKc_Syk_likecd050609.2e-6810271295
PTK_Tyk2_rpt1cd050762.8e-0710271291
PTK_Jak2_Jak3_rpt1cd050789.1e-1310271291
PTK_Jak1_rpt1cd050771.8e-1010271291
PTKc_Fescd050844.7e-6910271292
PTKc_Aatyk2cd050861.3e-3910271292
PTKc_Aatyk1_Aatyk3cd050872.1e-5110271292
PTKc_Sykcd051167.6e-4910271295
STKc_PKCcd055704.6e-0610271327
STKc_nPKC_etacd055900.0007410271365
STKc_PKBcd055712e-0510271354
STKc_nPKC_epsiloncd055910.0001310271365
STKc_nPKC_theta_deltcd055921e-0510271366
STKc_nPKC_thetacd056191.3e-0510271366
STKc_PKB_gammacd055930.000510271338
STKc_MEKK1cd066307.2e-0810271299
STKc_MEKK1_plantcd066325.3e-0910271284
PTKc_Zap-70cd051155e-4410281295
STKc_MAPKKK_Bck1_likcd066292.6e-0810281284
PKccd001801.7e-6510291290
PTKc_Tiecd050472e-4710291295
PTKc_Fercd050853.4e-6410291292
STKc_AGCcd051232.7e-0710291298
STKc_cGK_PKGcd055728.5e-0610291291
STKc_GRKcd055779.9e-0710291313
STKc_MAST_likecd055794.5e-0510291303
STKc_beta_ARKcd056065.4e-0510291318
STKc_GRK7cd056076.2e-0510291318
STKc_GRK1cd056081.3e-0710291316
STKc_YSK4cd066312.1e-0810291295
Recep_L_domainpfam010301.9e-4452164
Furin-likepfam007571.9e-81179340
Recep_L_domainpfam010307.1e-48359474
Pkinasepfam000691e-3510231290
FUsmart002613.2e-12225274
FN3smart000601.3e-07850934
Pkinase_Tyrpfam077147.6e-15510231290
TyrKcsmart002196.1e-14010231290
STYKcsmart002211.5e-5110231298
S_TKcsmart002201.8e-4410331298

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_004094Diseasep.ALA1075ASPInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004096Diseasep.ALA1162GLUInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_058395Polymorphismp.ALA2GLYN/A
Swiss-ProtVAR_004095Diseasep.ALA1161THRInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015923Diseasep.ALA1055VALInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015909Diseasep.ALA119VALLeprechaunism (LEPRCH)
Swiss-ProtVAR_015540Diseasep.ARG279CYSInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004092Diseasep.ARG1020GLNInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015927Diseasep.ARG1158GLNDiabetes mellitus, non-insulin-dependent (NIDDM)
Swiss-ProtVAR_004098Diseasep.ARG1191GLNDiabetes mellitus, non-insulin-dependent (NIDDM)
Swiss-ProtVAR_015929Diseasep.ARG1201GLNInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015934Diseasep.ARG1378GLNInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_031519Diseasep.ARG279HISInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004082Diseasep.ARG113PROLeprechaunism (LEPRCH)
Swiss-ProtVAR_004090Diseasep.ARG762SERInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015925Diseasep.ARG1119TRPLeprechaunism (LEPRCH)
Swiss-ProtVAR_015928Diseasep.ARG1158TRPRabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_015930Diseasep.ARG1201TRPRabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_015919Diseasep.ARG926TRPLeprechaunism (LEPRCH)
Swiss-ProtVAR_031521Diseasep.ASN458ASPLeprechaunism (LEPRCH)
Swiss-ProtVAR_004079Diseasep.ASN42LYSRabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_004089Diseasep.ASN489SERInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015907Diseasep.ASP86GLYInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_041429Polymorphismp.CYS228ARGN/A
Swiss-ProtVAR_015911Diseasep.CYS280TYRInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015912Diseasep.CYS301TYRLeprechaunism (LEPRCH)
Swiss-ProtVAR_041430Polymorphismp.GLN695ARGN/A
Swiss-ProtVAR_015916Polymorphismp.GLN492LYSN/A
Swiss-ProtVAR_015931Diseasep.GLU1206ASPInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015932Diseasep.GLU1206LYSLeprechaunism (LEPRCH)
Swiss-ProtVAR_004086Diseasep.GLY393ARGLeprechaunism (LEPRCH)
Swiss-ProtVAR_004081Diseasep.GLY58ARGLeprechaunism (LEPRCH)
Swiss-ProtVAR_031520Diseasep.GLY386SERRabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_041431Polymorphismp.GLY811SERN/A
Swiss-ProtVAR_004093Diseasep.GLY1035VALInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004084Diseasep.HIS236ARGLeprechaunism (LEPRCH)
Swiss-ProtVAR_015539Diseasep.ILE146METLeprechaunism (LEPRCH)
Swiss-ProtVAR_015922Polymorphismp.ILE1023PHEN/A
Swiss-ProtVAR_015926Diseasep.ILE1143THRRabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_015915Polymorphismp.ILE448THRN/A
Swiss-ProtVAR_015918Diseasep.ILE925THRLeprechaunism (LEPRCH)
Swiss-ProtVAR_031518Diseasep.LEU120GLNLeprechaunism (LEPRCH)
Swiss-ProtVAR_004085Diseasep.LEU260PROLeprechaunism (LEPRCH)
Swiss-ProtVAR_015908Diseasep.LEU89PROInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_041432Polymorphismp.LEU1065VALN/A
Swiss-ProtVAR_015924Polymorphismp.LYS1095GLUN/A
Swiss-ProtVAR_004088Diseasep.LYS487GLULeprechaunism (LEPRCH)
Swiss-ProtVAR_004097Polymorphismp.MET1180ILEN/A
Swiss-ProtVAR_004087Diseasep.PHE409VALInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004099Diseasep.PRO1205LEUInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004083Polymorphismp.PRO220LEUN/A
Swiss-ProtVAR_055986Polymorphismp.PRO830LEUN/A
Swiss-ProtVAR_015921Diseasep.PRO997THRRabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_015914Diseasep.SER350LEURabson-Mendenhall syndrome (RMS)
Swiss-ProtVAR_041433Polymorphismp.THR1282ALAN/A
Swiss-ProtVAR_015917Diseasep.THR858ALADiabetes mellitus, non-insulin-dependent (NIDDM)
Swiss-ProtVAR_015920Diseasep.THR937METLeprechaunism (LEPRCH)
Swiss-ProtVAR_004100Diseasep.TRP1220LEUInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004101Diseasep.TRP1227SERInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_015542Diseasep.TRP439SERLeprechaunism (LEPRCH)
Swiss-ProtVAR_015933Polymorphismp.TYR1361CYSN/A
Swiss-ProtVAR_058396Polymorphismp.TYR171HISN/A
Swiss-ProtVAR_004080Diseasep.VAL55ALALeprechaunism (LEPRCH)
Swiss-ProtVAR_015910Diseasep.VAL167LEUInsulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A)
Swiss-ProtVAR_004091Polymorphismp.VAL1012METN/A
OMIM147670.0026 Diseasep.ALA1135GLUDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0008 Diseasep.ALA1134THRDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS||INSULIN RESISTANCE, INCLUDED
OMIM147670.0021 Diseasep.ARG1152GLNDIABETES MELLITUS, NONINSULIN-DEPENDENT
OMIM147670.0030 147670.0037 Diseasep.ARG1174GLNHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5
OMIM147670.0018 Diseasep.ARG981GLNDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0025 Diseasep.ARG86PRODONOHUE SYNDROME
OMIM147670.0004 Diseasep.ARG735SERDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0013 Diseasep.ARG1000TERRABSON-MENDENHALL SYNDROME
OMIM147670.0022 Diseasep.ARG372TERDONOHUE SYNDROME
OMIM147670.0019 Diseasep.ARG988TERDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0036 Diseasep.ASN431ASPDONOHUE SYNDROME
OMIM147670.0012 Diseasep.ASN15LYSRABSON-MENDENHALL SYNDROME
OMIM147670.0016 Diseasep.ASN462SERDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0003 Diseasep.GLU672TERDONOHUE SYNDROME
OMIM147670.0020 Diseasep.GLY31ARGDONOHUE SYNDROME
OMIM147670.0024 Diseasep.GLY366ARGDONOHUE SYNDROME
OMIM147670.0001 Diseasep.GLY996VALDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0014 Diseasep.HIS209ARGDONOHUE SYNDROME
OMIM147670.0033 Diseasep.ILE119METDONOHUE SYNDROME
OMIM147670.0010 Diseasep.LEU233PRODONOHUE SYNDROME
OMIM147670.0002 Diseasep.LYS460GLUDONOHUE SYNDROME
OMIM147670.0027 Diseasep.LYS121TERDONOHUE SYNDROME
OMIM147670.0031 Diseasep.MET1153ILEINSULIN RESISTANCE
OMIM147670.0011 Diseasep.PHE382VALDIABETES MELLITUS, INSULIN-RESISTANT
OMIM147670.0009 Diseasep.TRP1200SERDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0032 Diseasep.TRP412SERDONOHUE SYNDROME
OMIM147670.0015 Diseasep.TRP133TERDIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
OMIM147670.0023 Diseasep.VAL28ALADONOHUE SYNDROME
OMIM147670.0029 Diseasep.VAL985METDIABETES MELLITUS, NONINSULIN-DEPENDENT



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