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Results for the Protein: Q9UPZ9
48428273
ICK

ICK_HUMAN RecName: Full=Serine/threonine-protein kinase ICK; AltName: Full=Intestinal cell kinase; Short=hICK; AltName: Full=Laryngeal cancer kinase 2; Short=LCK2; AltName: Full=MAK-related kinase; Short=MRK

Known Diseases associated with this Protein:
  ENDOCRINE-CEREBROOSTEODYSPLASIA
  ENDOCRINE-CEREBROOSTEODYSPLASIA (ECO)
2
6
1
1
6
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

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



Default View:

STKc_PCTAIRE_like - cd07844
STKc_PAK3 - cd06656
STKc_PAK2 - cd06655
STKc_CDK10 - cd07845
STKc_JNK - cd07850
STKc_TEY_MAPK_plant - cd07858
STKc_MAPK15 - cd07852
STKc_PAK1 - cd06654
STKc_PAK_I - cd06647
STKc_myosinIIIA - cd06638
STKc_TAO1 - cd06635
STKc_myosinIIIB - cd06639
STKc_STK10_LOK - cd06644
STKc_MAP4K5 - cd06646
STKc_MAP4K3 - cd06645
STKc_CDK12 - cd07864
STKc_BUR1 - cd07866
STKc_CDC2L6 - cd07867
STKc_p38gamma_MAPK12 - cd07880
STKc_CDK8 - cd07868
STKc_Nek6_Nek7 - cd08224
STKc_Nek6 - cd08228
PTKc_InsR_like - cd05032
STKc_Nek7 - cd08229
STKc_JNK2 - cd07876
STKc_JNK1 - cd07875
STKc_PFTAIRE2 - cd07870
STKc_PFTAIRE1 - cd07869
STKc_PCTAIRE3 - cd07871
STKc_PCTAIRE2 - cd07872
STKc_JNK3 - cd07874
STKc_PCTAIRE1 - cd07873
STKc_ASK - cd06624
STKc_CDK9 - cd07865
PTKc_Lyn - cd05072
PTKc_Fyn_Yrk - cd05070
PTKc_Lck_Blk - cd05067
PTKc_Hck - cd05073
PTKc_Tyk2_rpt2 - cd05080
PTKc_Chk - cd05083
PTKc_Csk - cd05082
PTKc_EphR_A - cd05066
PTKc_InsR - cd05061
STKc_MAP4K3_like - cd06613
PTKc_Csk_like - cd05039
PTK_CCK4 - cd05046
PTKc_Ror - cd05048
PTKc_Abl - cd05052
PTKc_Trk - cd05049
PTKc_Tie2 - cd05088
PTKc_Frk_like - cd05068
PTKc_FGFR2 - cd05101
PTKc_FGFR3 - cd05100
PTKc_FGFR4 - cd05099
PTKc_VEGFR3 - cd05102
PTK_HER3 - cd05111
PTKc_EGFR_like - cd05057
PTKc_Btk_Bmx - cd05113
PTKc_FGFR1 - cd05098
PTKc_IGF-1R - cd05062
PTKc_TrkA - cd05092
PTKc_Ror1 - cd05090
PTKc_TrkC - cd05094
PTKc_TrkB - cd05093
PTKc_DDR2 - cd05095
PTKc_DDR_like - cd05097
STKc_PAK_II - cd06648
STKc_SLK - cd06643
STKc_STK25-YSK1 - cd06642
PKc_MEK2 - cd06649
STKc_MEKK3_like_1 - cd06653
STKc_PAK4 - cd06657
STKc_MST3 - cd06641
STKc_MEKK2 - cd06652
PKc_MEK1 - cd06650
STKc_TAO3 - cd06633
PKc_MEK - cd06615
PKc_MAPKK_Pek1_like - cd06621
PKc_MAPKK_PBS2_like - cd06622
PKc_MAPKK_plant_like - cd06623
STKc_MEKK3_like - cd06625
STKc_TAO2 - cd06634
STKc_PAK5 - cd06658
STKc_MST4 - cd06640
STKc_MAPK4_6 - cd07854
STKc_p38alpha_MAPK14 - cd07877
STKc_CDK6 - cd07862
STKc_Sty1_Hog1 - cd07856
STKc_p38beta_MAPK11 - cd07878
STKc_p38delta_MAPK13 - cd07879
PKc_MKK7 - cd06618
SPS1 - COG0515
STKc_ERK5 - cd07855
STKc_ERK1_2_like - cd07849
STKc_CdkB_plant - cd07837
STKc_CDKL - cd07833
STKc_NAK1_like - cd06917
STKc_CDC2L1 - cd07843
STKc_CDKL2_3 - cd07846
STKc_CDKL5 - cd07848
STKc_CDKL1_4 - cd07847
STKc_PAK - cd06614
STKc_p38 - cd07851
PTKc_EGFR - cd05108
PTKc_Jak1_rpt2 - cd05079
PTKc_EphR_A10 - cd05064
PTKc_HER2 - cd05109
PTKc_Itk - cd05112
STKc_phototropin_lik - cd05574
STKc_ROCK_NDR_like - cd05573
PTKc_Tec_Rlk - cd05114
PTKc_FAK - cd05056
PTKc_PDGFR - cd05055
PTKc_ALK_LTK - cd05036
PTKc_Src_like - cd05034
PKc_MKK3_6 - cd06617
PTKc_Jak_rpt2 - cd05038
PTKc_Musk - cd05050
PTKc_FGFR - cd05053
PTKc_DDR - cd05051
STKc_PKA - cd05580
PTKc_EphR_A2 - cd05063
STKc_TAO - cd06607
STKc_NDR_like_fungal - cd05629
STKc_NDR1 - cd05628
STKc_myosinIII_like - cd06608
STKc_MST3_like - cd06609
STKc_PDK1 - cd05581
STKc_MST1_2 - cd06612
STKc_OSR1_SPAK - cd06610
STKc_NDR2 - cd05627
PKc_MAPKK - cd06605
STKc_Sid2p_Dbf2p - cd05600
STKc_NDR_like - cd05599
STKc_DMPK_like - cd05597
STKc_MAST - cd05609
STKc_LATS - cd05598
STKc_LATS2 - cd05626
STKc_PRKX_like - cd05612
STKc_LATS1 - cd05625
STKc_TDY_MAPK_plant - cd07859
STKc_CDK2_3 - cd07860
STKc_CDK1_euk - cd07861
STKc_CDK4 - cd07863
STKc_MPK1 - cd07857
STKc_CDK8_like - cd07842
STKc_Nek2 - cd08217
STKc_CDK7 - cd07841
STKc_Pho85 - cd07836
STKc_NLK - cd07853
STKc_CNK2-like - cd08530
STKc_Nek4 - cd08223
STKc_Nek5 - cd08225
STKc_Nek10 - cd08528
STKc_CDK5 - cd07839
STKc_Nek11 - cd08222
STKc_Nek9 - cd08221
STKc_Nek3 - cd08219
STKc_Nek8 - cd08220
STKc_Nek - cd08215
STKc_Nek1 - cd08218
STKc_cPKC - cd05587
STKc_MSK_N - cd05583
STKc_MAPK - cd07834
STKc_GRK4_like - cd05605
STKc_MSK1_N - cd05613
PKc_STE - cd05122
PTKc_Ror2 - cd05091
PTKc_EphR - cd05033
PTKc_RET - cd05045
PTKc_EphR_B - cd05065
STKc_MSK2_N - cd05614
STKc_Yank1 - cd05578
STKc_MEKK1 - cd06630
STKc_YSK4 - cd06631
STKc_cPKC_beta - cd05616
STKc_CCRK - cd07832
STKc_MAPKKK_Byr2_lik - cd06628
STKc_MEKK3 - cd06651
STKc_Cdc7_like - cd06627
STKc_cPKC_alpha - cd05615
STKc_GRK4 - cd05631
STKc_MAPKKK - cd06606
STKc_CDK1_like - cd07835
STKc_CDK4_6_like - cd07838
STKc_MOK - cd07831
STKc_CDK9_like - cd07840
STKc_MAK_like - cd07830
TyrKc - smart00219
STKc_CDK_like - cd07829
STYKc - smart00221
Pkinase_Tyr - pfam07714
Pkinase - pfam00069
PTKc_Axl_like - cd05035
PTKc_Tyro3 - cd05074
PTKc_Axl - cd05075
STKc_CMGC - cd05118
PTK_Ryk - cd05043
PTKc_Srm_Brk - cd05148
STKc_MAP4K4_6 - cd06636
PKc_MKK4 - cd06616
STKc_PKN - cd05589
STKc_TNIK - cd06637
PK_STRAD - cd08216
PTKc_Tec_like - cd05059
PTKc_Src - cd05071
PTKc_Yes - cd05069
STKc_PAK6 - cd06659
PKc_MAPKK_Byr1_like - cd06620
STKc_GRK6 - cd05630
STKc_GRK5 - cd05632
STKc_CRIK - cd05601
STKc_FA2-like - cd08529
STKc_SLK_like - cd06611
PTKc_Jak2_Jak3_rpt2 - cd05081
STKc_p70S6K - cd05584
STKc_RSK_N - cd05582
STKc_Rim15_like - cd05611
STKc_nPKC_eta - cd05590
STKc_SGK1 - cd05602
STKc_PKB_beta - cd05595
STKc_PKB_gamma - cd05593
STKc_SGK2 - cd05603
STKc_PKB_alpha - cd05594
STKc_aPKC_zeta - cd05617
STKc_nPKC_delta - cd05620
STKc_MEKK1_plant - cd06632
STKc_nPKC_theta - cd05619
STKc_aPKC_iota - cd05618
STKc_nPKC_theta_delt - cd05592
STKc_SGK3 - cd05604
STKc_PKB - cd05571
PTKc - cd00192
PTKc_c-ros - cd05044
PTKc_Syk_like - cd05060
STKc_nPKC_epsilon - cd05591
PTKc_Ack_like - cd05040
PTKc_Aatyk - cd05042
PTKc_Fes_like - cd05041
PTKc_Fes - cd05084
PTKc_Met_Ron - cd05058
PTKc_Fer - cd05085
STKc_PKC - cd05570
STKc_SGK - cd05575
STKc_aPKC - cd05588
PTKc_Aatyk1_Aatyk3 - cd05087
PTKc_Syk - cd05116
PTKc_Aatyk2 - cd05086
STKc_MEKK4 - cd06626
PTKc_Zap-70 - cd05115
STKc_GRK7 - cd05607
STKc_GRK1 - cd05608
STKc_beta_ARK - cd05606
STKc_GRK3 - cd05633
PTKc_Tie - cd05047
STKc_cGK_PKG - cd05572
STKc_AGC - cd05123
PKc - cd00180
STKc_Sck1_like - cd05586
STKc_GRK - cd05577
STKc_YPK1_like - cd05585
STKc_MAST_like - cd05579
STKc_MAPKKK_Bck1_lik - cd06629
S_TKc - smart00220


Swiss-Prot Protein: Q9UPZ9
Identical to: NP_057597, NP_055735
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PTKc_InsR_likecd050323.5e-091263
PTKc_Csk_likecd050396.6e-061209
PTK_CCK4cd050463.1e-061263
PTKc_Rorcd050481.2e-091249
PTKc_Trkcd050499.2e-111263
PTKc_Ablcd050522.9e-091250
PTKc_InsRcd050611.1e-051274
PTKc_EphR_Acd050667.5e-061250
PTKc_Lck_Blkcd050677.3e-071268
PTKc_Frk_likecd050688.3e-141264
PTKc_Fyn_Yrkcd050701.5e-061264
PTKc_Lyncd050721.6e-081253
PTKc_Hckcd050731.6e-081264
PTKc_Tyk2_rpt2cd050801.8e-071289
PTKc_Cskcd050822.4e-061253
PTKc_Chkcd050831.3e-061256
PTKc_Tie2cd050880.000241288
PTKc_Ror1cd050901.6e-051256
PTKc_TrkAcd050921.6e-061267
PTKc_TrkBcd050932.7e-071262
PTKc_TrkCcd050941.3e-051299
PTKc_DDR2cd050955.4e-051262
PTKc_DDR_likecd050974.8e-051267
PTKc_FGFR1cd050980.000521272
PTKc_FGFR4cd050991.7e-051270
PTKc_FGFR3cd051000.00041289
PTKc_FGFR2cd051010.00011272
PTKc_VEGFR3cd051020.000531268
PTK_HER3cd051113.6e-051271
PTKc_Btk_Bmxcd051137.5e-111254
PTKc_IGF-1Rcd050622.7e-051256
PTKc_EGFR_likecd050577.8e-051243
STKc_MAP4K3_likecd066137.6e-131283
STKc_ASKcd066247.8e-091284
STKc_TAO1cd066352.8e-081285
STKc_myosinIIIAcd066385.4e-051266
STKc_myosinIIIBcd066390.000191285
STKc_STK10_LOKcd066441.2e-061272
STKc_MAP4K3cd066453.9e-091283
STKc_MAP4K5cd066466.1e-091283
STKc_PAK_Icd066472.1e-061305
STKc_PAK1cd066542.7e-061307
STKc_PAK2cd066552.1e-061308
STKc_PAK3cd066562.5e-061309
STKc_PCTAIRE_likecd078444.3e-741284
STKc_CDK10cd078451.2e-591297
STKc_JNKcd078501e-281311
STKc_MAPK15cd078521.2e-381307
STKc_TEY_MAPK_plantcd078582.5e-621325
STKc_CDK12cd078647.1e-531284
STKc_CDK9cd078652.6e-291284
STKc_BUR1cd078665.8e-391284
STKc_PFTAIRE1cd078694.2e-431299
STKc_PFTAIRE2cd078702.2e-541284
STKc_PCTAIRE3cd078716.2e-691284
STKc_PCTAIRE2cd078721.7e-581302
STKc_PCTAIRE1cd078739.7e-621299
STKc_JNK3cd078741.5e-131346
STKc_JNK1cd078754.3e-111348
STKc_JNK2cd078761.7e-131321
STKc_CDK8cd078681.2e-201284
STKc_p38gamma_MAPK12cd078809.4e-481325
STKc_CDC2L6cd078674.7e-221284
STKc_Nek6_Nek7cd082245.4e-101283
STKc_Nek6cd082281.5e-061266
STKc_Nek7cd082292.4e-081291
PTKc_Src_likecd050341.4e-102284
PTKc_ALK_LTKcd050361.3e-072255
PTKc_Jak_rpt2cd050382e-082280
PTKc_Muskcd050503.5e-092262
PTKc_DDRcd050510.000292286
PTKc_FGFRcd050535.8e-062287
PTKc_PDGFRcd050550.000132235
PTKc_FAKcd050563.3e-072258
PTKc_EphR_A2cd050637e-062265
PTKc_EphR_A10cd050645.1e-062258
PTKc_Jak1_rpt2cd050793.3e-062287
PTKc_EGFRcd051080.00042303
PTKc_HER2cd051090.000122267
PTKc_Itkcd051124.1e-102253
PTKc_Tec_Rlkcd051141.5e-082254
STKc_ROCK_NDR_likecd055731.7e-082350
STKc_phototropin_likcd055741.8e-082324
STKc_PKAcd055802.6e-082335
STKc_PDK1cd055812.5e-162284
STKc_DMPK_likecd055977.1e-052333
STKc_LATScd055981.4e-052339
STKc_NDR_likecd055998.5e-062287
STKc_Sid2p_Dbf2pcd056001.1e-072351
STKc_MASTcd056092.3e-062318
STKc_PRKX_likecd056122.1e-072301
STKc_LATS1cd056250.000172374
STKc_LATS2cd056260.000152339
STKc_NDR2cd056270.000292355
STKc_NDR1cd056280.000182318
STKc_NDR_like_fungalcd056290.000262355
PKc_MAPKKcd066053.3e-112288
STKc_TAOcd066075e-082310
STKc_myosinIII_likecd066084.5e-092284
STKc_MST3_likecd066091.2e-092305
STKc_OSR1_SPAKcd066101.9e-122284
STKc_MST1_2cd066126.4e-132284
PKc_MKK3_6cd066172.2e-072303
PKc_MKK7cd066181.1e-072310
PKc_MAPKK_Pek1_likecd066213.9e-062308
PKc_MAPKK_PBS2_likecd066222.8e-062337
PKc_MEKcd066153.4e-072294
PKc_MAPKK_plant_likecd066234.2e-142289
STKc_MEKK3_likecd066251.2e-122284
STKc_TAO3cd066332.3e-062285
STKc_TAO2cd066341.3e-092277
STKc_MST4cd066401.3e-052305
STKc_MST3cd066411.9e-052305
STKc_STK25-YSK1cd066421e-052305
STKc_SLKcd066431.1e-072313
STKc_PAK_IIcd066485.6e-092297
PKc_MEK2cd066493.7e-052344
PKc_MEK1cd066500.000152308
STKc_MEKK2cd066525.3e-062267
STKc_MEKK3_like_1cd066532.7e-072262
STKc_PAK4cd066576e-052303
STKc_PAK5cd066588.7e-052301
STKc_PAKcd066144.1e-142297
STKc_NAK1_likecd069171.2e-062269
STKc_CDKLcd078334.2e-742284
STKc_CdkB_plantcd078374.8e-782285
STKc_CDC2L1cd078436.4e-622284
STKc_CDKL2_3cd078461.4e-652284
STKc_CDKL1_4cd078471e-732284
STKc_CDKL5cd078482.3e-492284
STKc_ERK1_2_likecd078492.9e-402313
STKc_p38cd078512.8e-422322
STKc_ERK5cd078556.1e-342310
STKc_Sty1_Hog1cd078568.4e-332311
STKc_CDK6cd078623e-482284
STKc_p38alpha_MAPK14cd078776.1e-342321
STKc_p38beta_MAPK11cd078786e-332325
STKc_p38delta_MAPK13cd078797.9e-482322
STKc_MAPK4_6cd078542.3e-242311
SPS1COG05153.8e-702463
PTKc_EphRcd050331.2e-093250
PTKc_RETcd050451.6e-053264
PTKc_EphR_Bcd050653.9e-073250
PTKc_Ror2cd050914.3e-053249
PKc_STEcd051221.2e-263283
STKc_MSK_Ncd055835.1e-073303
STKc_Yank1cd055782.4e-123284
STKc_cPKCcd055877.6e-073318
STKc_GRK4_likecd056052.7e-093321
STKc_MSK1_Ncd056132e-053303
STKc_MSK2_Ncd056148.6e-073341
STKc_cPKC_betacd056164.1e-053309
STKc_GRK4cd056311.3e-053289
STKc_cPKC_alphacd056152.6e-063318
STKc_MAPKKKcd066064.4e-303284
STKc_Cdc7_likecd066276.5e-203284
STKc_MAPKKK_Byr2_likcd066283.1e-263284
STKc_MEKK1cd066302.4e-103285
STKc_YSK4cd066311.7e-103284
STKc_MEKK3cd066513.1e-083286
STKc_CCRKcd078325.2e-863285
STKc_MAPKcd078341.5e-583310
STKc_CDK5cd078391.1e-643284
STKc_CDK7cd078413e-743298
STKc_Pho85cd078369.4e-783284
STKc_CDK8_likecd078423.1e-513284
STKc_NLKcd078539.4e-203352
STKc_MPK1cd078575.5e-443311
STKc_TDY_MAPK_plantcd078597.3e-513325
STKc_CDK2_3cd078605e-793284
STKc_CDK1_eukcd078616.9e-793284
STKc_CDK4cd078633.8e-603284
STKc_Nek2cd082176.2e-173284
STKc_Nek1cd082181.1e-193250
STKc_Nek3cd082191.1e-233255
STKc_Nek8cd082204.8e-103284
STKc_Nekcd082151.1e-263284
STKc_Nek9cd082217.3e-153284
STKc_Nek11cd082221.2e-103284
STKc_Nek4cd082233.7e-143284
STKc_Nek5cd082254.8e-163284
STKc_Nek10cd085286.3e-103258
STKc_CNK2-likecd085308.6e-133284
PTKc_Axl_likecd050354.3e-054265
PTK_Rykcd050430.000394286
PTKc_Tyro3cd050742.7e-054259
PTKc_Axlcd050750.000324254
STKc_CMGCcd051181.7e-1804284
PTKc_Srm_Brkcd051488.9e-094268
STKc_PKNcd055891.4e-074361
PKc_MKK4cd066161e-054308
STKc_MAP4K4_6cd066368.1e-054266
STKc_TNIKcd066373.8e-064253
STKc_CDK_likecd078292.1e-1134284
STKc_MAK_likecd078306.1e-2294284
STKc_MOKcd078313.7e-1084284
STKc_CDK1_likecd078353.2e-774284
STKc_CDK4_6_likecd078386.3e-594284
STKc_CDK9_likecd078401.4e-784284
PTKc_Tec_likecd050592.4e-135235
PTKc_Yescd050692.8e-085264
PTKc_Srccd050711.7e-065266
STKc_PAK6cd066592.7e-075306
PK_STRADcd082169.5e-075299
STKc_CRIKcd056019.3e-076352
STKc_GRK6cd056303.2e-056273
STKc_GRK5cd056322.5e-066269
PKc_MAPKK_Byr1_likecd066201.8e-056290
PTKc_Jak2_Jak3_rpt2cd050812.6e-087259
STKc_RSK_Ncd055821.3e-067323
STKc_p70S6Kcd055846.7e-077319
STKc_Rim15_likecd056110.000237367
STKc_SLK_likecd066112.1e-097299
STKc_FA2-likecd085292.5e-107284
PTKccd001921.9e-118283
PTKc_Ack_likecd050402.5e-118252
PTKc_Fes_likecd050413.1e-098248
PTKc_Aatykcd050423.6e-068281
PTKc_c-roscd050448.2e-078256
PTKc_Met_Roncd050583.5e-058259
PTKc_Syk_likecd050602.8e-088240
PTKc_Fescd050848e-078255
PTKc_Fercd050856.2e-068258
PTKc_Aatyk2cd050860.000448267
PTKc_Aatyk1_Aatyk3cd050870.000718264
PTKc_Sykcd051161.6e-068266
STKc_PKCcd055704e-098364
STKc_SGKcd055755.3e-068350
STKc_PKBcd055719.6e-118354
STKc_aPKCcd055883.7e-078370
STKc_nPKC_epsiloncd055917.6e-078365
STKc_nPKC_theta_deltcd055921.9e-068319
STKc_PKB_gammacd055933e-078391
STKc_PKB_alphacd055943.3e-088323
STKc_PKB_betacd055958.8e-078354
STKc_nPKC_etacd055903.9e-058318
STKc_SGK1cd056026.2e-068352
STKc_SGK2cd056039.3e-078285
STKc_SGK3cd056040.000168314
STKc_aPKC_zetacd056179.1e-078370
STKc_aPKC_iotacd056186.6e-068370
STKc_nPKC_thetacd056191.9e-068319
STKc_nPKC_deltacd056200.000198319
STKc_MEKK1_plantcd066323.2e-158284
PTKc_Zap-70cd051151.2e-059251
STKc_MEKK4cd066261.4e-139284
PKccd001802.6e-7710282
PTKc_Tiecd050470.0006810266
STKc_AGCcd051237.7e-1610284
STKc_cGK_PKGcd055721.7e-1110240
STKc_GRKcd055773.8e-0910319
STKc_MAST_likecd055793.7e-1510285
STKc_YPK1_likecd055852.3e-0610312
STKc_Sck1_likecd055861.2e-0610374
STKc_beta_ARKcd056061.4e-0710282
STKc_GRK7cd056079.8e-0710244
STKc_GRK1cd056089.2e-0710286
STKc_GRK3cd056333.6e-0610308
STKc_MAPKKK_Bck1_likcd066293.4e-1411284
Pkinasepfam000692.7e-1104284
Pkinase_Tyrpfam077142.6e-164282
TyrKcsmart002192.8e-144282
STYKcsmart002213e-964284
S_TKcsmart002203.9e-10614284

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_042005Polymorphismp.ALA615THRN/A
Swiss-ProtVAR_057994Diseasep.ARG272GLNEndocrine-cerebroosteodysplasia (ECO)
Swiss-ProtVAR_042004Polymorphismp.ARG476GLNN/A
Swiss-ProtVAR_042001Polymorphismp.PHE115TYRN/A
Swiss-ProtVAR_053931Polymorphismp.PRO98LEUN/A
Swiss-ProtVAR_042003Polymorphismp.THR471LYSN/A
dbSNPrs33936662 Polymorphismp.VAL320ILEN/A
OMIM612325.0001 Diseasep.ARG272GLNENDOCRINE-CEREBROOSTEODYSPLASIA



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