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Results for the Protein: O14936
145559462

CSKP_HUMAN RecName: Full=Peripheral plasma membrane protein CASK; Short=hCASK; AltName: Full=Calcium/calmodulin-dependent serine protein kinase; AltName: Full=Protein lin-2 homolog

Known Diseases associated with this Protein:
  FG SYNDROME 4 (FGS4)
  MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA (MICPCH)
4
1
0
0
5
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_PAK6 - cd06659
STKc_PAK4 - cd06657
PKc_MEK1 - cd06650
STKc_PAK5 - cd06658
STKc_JNK - cd07850
STKc_ROCK - cd05596
STKc_p38delta_MAPK13 - cd07879
STKc_myosinIIIB - cd06639
STKc_p38 - cd07851
STKc_ROCK1 - cd05622
STKc_PAK - cd06614
STKc_myosinIIIA - cd06638
PKc_MKK7 - cd06618
STKc_TAO3 - cd06633
STKc_MAP4K4_6 - cd06636
STKc_TAO1 - cd06635
STKc_JNK2 - cd07876
STKc_MAPK15 - cd07852
STKc_MAPK4_6 - cd07854
STKc_PAK1 - cd06654
STKc_STK10_LOK - cd06644
STKc_PAK_II - cd06648
STKc_PAK_I - cd06647
STKc_TAO2 - cd06634
STKc_TAO - cd06607
STKc_CDK9 - cd07865
STKc_p38beta_MAPK11 - cd07878
STKc_PAK3 - cd06656
STKc_p38alpha_MAPK14 - cd07877
STKc_p38gamma_MAPK12 - cd07880
PTK_HER3 - cd05111
PTKc_FGFR2 - cd05101
STKc_PAK2 - cd06655
STKc_ROCK2 - cd05621
PTKc_TrkA - cd05092
PKc_MAPKK_Byr1_like - cd06620
PKc_MEK2 - cd06649
PTKc_FGFR4 - cd05099
STKc_MAP4K5 - cd06646
PTKc_TrkC - cd05094
PTKc_Musk - cd05050
PTKc_ALK_LTK - cd05036
PTKc_Abl - cd05052
PTKc_Ror - cd05048
PTKc_InsR - cd05061
PTKc_IGF-1R - cd05062
PTKc_HER4 - cd05110
PTKc_HER2 - cd05109
PTKc_Chk - cd05083
STKc_CDK10 - cd07845
PTKc_EGFR - cd05108
STKc_TEY_MAPK_plant - cd07858
PTKc_Csk_like - cd05039
PTKc_Jak_rpt2 - cd05038
PTKc_Tie2 - cd05088
PTKc_FAK - cd05056
PTKc_Trk - cd05049
PTKc_EGFR_like - cd05057
PTKc_Csk - cd05082
PTKc_Itk - cd05112
PTKc_DDR_like - cd05097
PTKc_Btk_Bmx - cd05113
PTKc_DDR2 - cd05095
STKc_CDK8 - cd07868
STKc_CDC2L6 - cd07867
STKc_Sty1_Hog1 - cd07856
PTKc_Lck_Blk - cd05067
PTKc_EphR_B - cd05065
PTKc_TrkB - cd05093
PTKc_Frk_like - cd05068
PTKc_InsR_like - cd05032
PTKc_Fyn_Yrk - cd05070
PTKc_Src - cd05071
PTKc_Ror1 - cd05090
STKc_TNIK - cd06637
STKc_ERK1_2_like - cd07849
STKc_ERK5 - cd07855
STKc_BUR1 - cd07866
STKc_MAP4K3_like - cd06613
STKc_ASK - cd06624
PTKc_Jak1_rpt2 - cd05079
PTKc_Jak2_Jak3_rpt2 - cd05081
PTKc_Tyk2_rpt2 - cd05080
PTKc_Tie1 - cd05089
STKc_MST1_2 - cd06612
STKc_MAP4K3 - cd06645
STKc_MEKK2 - cd06652
STKc_SLK - cd06643
STKc_MEKK3_like_1 - cd06653
STKc_PFTAIRE2 - cd07870
SPS1 - COG0515
STKc_JNK1 - cd07875
STKc_STK25-YSK1 - cd06642
STKc_PFTAIRE1 - cd07869
STKc_PCTAIRE_like - cd07844
STKc_MST4 - cd06640
STKc_SLK_like - cd06611
PKc_MAPKK - cd06605
STKc_MRCK_alpha - cd05623
STKc_MST3 - cd06641
PKc_MKK4 - cd06616
STKc_NDR1 - cd05628
PKc_MAPKK_plant_like - cd06623
PKc_MKK3_6 - cd06617
PKc_MKK5 - cd06619
PKc_MEK - cd06615
STKc_CDKL - cd07833
STKc_CDC2L1 - cd07843
STKc_CdkB_plant - cd07837
STKc_NAK1_like - cd06917
PKc_MAPKK_Pek1_like - cd06621
STKc_CDKL2_3 - cd07846
STKc_OSR1_SPAK - cd06610
PKc_MAPKK_PBS2_like - cd06622
STKc_PCTAIRE2 - cd07872
STKc_PCTAIRE1 - cd07873
STKc_JNK3 - cd07874
STKc_Nek6_Nek7 - cd08224
STKc_PCTAIRE3 - cd07871
STKc_CDK6 - cd07862
STKc_CDKL5 - cd07848
STKc_MST3_like - cd06609
STKc_CDKL1_4 - cd07847
STKc_CDK12 - cd07864
STKc_PKA - cd05580
STKc_PDK1 - cd05581
STKc_LATS - cd05598
STKc_ROCK_NDR_like - cd05573
STKc_phototropin_lik - cd05574
STKc_myosinIII_like - cd06608
PTKc_Tec_Rlk - cd05114
STKc_NDR_like - cd05599
PTKc_Tec_like - cd05059
STKc_Sid2p_Dbf2p - cd05600
STKc_NDR2 - cd05627
STKc_NDR_like_fungal - cd05629
STKc_MRCK_beta - cd05624
STKc_DMPK_like - cd05597
STKc_MAST - cd05609
STKc_CRIK - cd05601
STKc_PRKX_like - cd05612
STKc_TDY_MAPK_plant - cd07859
STKc_Nek - cd08215
STKc_CDK4 - cd07863
STKc_CDK8_like - cd07842
STKc_Nek2 - cd08217
STKc_MPK1 - cd07857
STKc_NLK - cd07853
STKc_CDK2_3 - cd07860
STKc_Nek5 - cd08225
STKc_Nek10 - cd08528
STKc_CNK2-like - cd08530
STKc_CDK7 - cd07841
STKc_Nek4 - cd08223
STKc_Nek9 - cd08221
STKc_Nek3 - cd08219
STKc_Nek8 - cd08220
STKc_Nek1 - cd08218
STKc_CCRK - cd07832
STKc_cPKC_alpha - cd05615
STKc_GRK4 - cd05631
STKc_GRK5 - cd05632
STKc_MSK1_N - cd05613
STKc_CDK5 - cd07839
PTKc_RET - cd05045
PKc_STE - cd05122
STKc_Yank1 - cd05578
STKc_GRK6 - cd05630
STKc_GRK4_like - cd05605
STKc_MAPKKK - cd06606
STKc_Pho85 - cd07836
STKc_MEKK3 - cd06651
STKc_MAPK - cd07834
STKc_MAPKKK_Byr2_lik - cd06628
STKc_Cdc7_like - cd06627
STKc_YSK4 - cd06631
STKc_Nek11 - cd08222
STKc_CDK1_euk - cd07861
STKc_MAK_like - cd07830
STKc_CDK4_6_like - cd07838
STKc_Nek6 - cd08228
STKc_CDK9_like - cd07840
Pkinase_Tyr - pfam07714
STKc_CDK1_like - cd07835
STYKc - smart00221
TyrKc - smart00219
Pkinase - pfam00069
STKc_FA2-like - cd08529
STKc_Nek7 - cd08229
PTKc_Axl_like - cd05035
PTKc_Srm_Brk - cd05148
PTKc_Tyro3 - cd05074
STKc_CMGC - cd05118
STKc_MOK - cd07831
STKc_MSK_N - cd05583
PTKc_Src_like - cd05034
STKc_MEKK3_like - cd06625
STKc_cPKC - cd05587
STKc_CDK_like - cd07829
STKc_cPKC_beta - cd05616
STKc_MSK2_N - cd05614
STKc_PKN - cd05589
PK_STRAD - cd08216
PK_STRAD_alpha - cd08227
STKc_MEKK4 - cd06626
STKc_p70S6K - cd05584
STKc_RSK_N - cd05582
STKc_SGK2 - cd05603
STKc_SGK3 - cd05604
STKc_aPKC - cd05588
STKc_SGK1 - cd05602
STKc_SGK - cd05575
STKc_aPKC_zeta - cd05617
STKc_MAPKKK_Bck1_lik - cd06629
STKc_PKB_gamma - cd05593
STKc_MEKK1_plant - cd06632
STKc_nPKC_delta - cd05620
STKc_nPKC_theta - cd05619
STKc_aPKC_iota - cd05618
STKc_MEKK1 - cd06630
PTKc - cd00192
PTKc_Syk_like - cd05060
PTKc_Fes - cd05084
PTKc_Ack_like - cd05040
PTKc_Fes_like - cd05041
STKc_PKB_beta - cd05595
PTKc_Tie - cd05047
PTKc_Fer - cd05085
PTK_Jak2_Jak3_rpt1 - cd05078
STKc_nPKC_eta - cd05590
STKc_nPKC_epsilon - cd05591
STKc_nPKC_theta_delt - cd05592
STKc_PKB_alpha - cd05594
PTKc_Syk - cd05116
STKc_PKB - cd05571
STKc_PKC - cd05570
STKc_beta_ARK - cd05606
STKc_GRK3 - cd05633
STKc_GRK7 - cd05607
STKc_Rim15_like - cd05611
STKc_GRK - cd05577
STKc_GRK1 - cd05608
PTKc_Lyn - cd05072
PTKc_Zap-70 - cd05115
STKc_AGC - cd05123
STKc_Sck1_like - cd05586
PKc - cd00180
STKc_YPK1_like - cd05585
STKc_MAST_like - cd05579
STKc_cGK_PKG - cd05572
S_TKc - smart00220
PTKc_Yes - cd05069
PTKc_Hck - cd05073
KIND - smart00750
L27 - smart00569
L27 - pfam02828
PDZ - smart00228
PDZ_signaling - cd00992
PDZ - pfam00595
PDZ - cd00136
SH3 - smart00326
SH3_2 - pfam07653
SH3 - cd00174
SH3_1 - pfam00018
Gmk - COG0194
GuKc - smart00072
Guanylate_kin - pfam00625
GMPK - cd00071


Swiss-Prot Protein: O14936
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
STKc_ROCKcd055964.2e-071327
STKc_ROCK1cd056225.4e-071354
STKc_PAKcd066141.8e-241286
PKc_MKK7cd066189.2e-081294
STKc_TAO3cd066330.000191310
STKc_TAO1cd066352.8e-051310
STKc_MAP4K4_6cd066367.3e-071276
STKc_myosinIIIAcd066382.6e-101276
STKc_myosinIIIBcd066391.7e-101277
PKc_MEK1cd066503.8e-051351
STKc_PAK4cd066574.7e-091302
STKc_PAK6cd066598e-141302
STKc_PAK5cd066585.6e-091296
STKc_JNKcd078505.7e-081303
STKc_p38cd078511.1e-111317
STKc_p38delta_MAPK13cd078790.000451322
STKc_STK10_LOKcd066441.6e-102295
STKc_PAK1cd066541e-092299
STKc_MAPK4_6cd078542.4e-072308
STKc_JNK2cd078767.6e-072314
STKc_MAPK15cd078521.4e-132308
STKc_TAOcd066071.4e-063310
STKc_TAO2cd066347.5e-073311
STKc_PAK_Icd066476.5e-153297
STKc_PAK_IIcd066487.2e-143289
PTKc_FGFR2cd051010.000634264
PTK_HER3cd051110.000194288
STKc_ROCK2cd056211e-074322
STKc_PAK2cd066552.8e-104300
STKc_PAK3cd066564.6e-104301
STKc_CDK9cd078655.5e-134276
STKc_p38beta_MAPK11cd078784.6e-064317
STKc_p38gamma_MAPK12cd078801.8e-074317
STKc_p38alpha_MAPK14cd078777.5e-064322
PTKc_ALK_LTKcd050361.3e-065273
PTKc_Rorcd050483.1e-055259
PTKc_Muskcd050504.9e-065273
PTKc_Ablcd050526e-075275
PTKc_InsRcd050613e-055281
PTKc_IGF-1Rcd050625.1e-055278
PTKc_TrkCcd050940.000285323
PTKc_FGFR4cd050997.3e-055298
PTKc_TrkAcd050921.9e-055282
PKc_MAPKK_Byr1_likecd066202.6e-085283
STKc_MAP4K5cd066462.2e-075275
PKc_MEK2cd066496e-065354
PTKc_Jak_rpt2cd050383.3e-066296
PTKc_Csk_likecd050390.000416274
PTKc_Trkcd050494.9e-086273
PTKc_FAKcd050562.6e-076279
PTKc_EGFR_likecd050575.9e-056287
PTKc_Cskcd050821.8e-056274
PTKc_Tie2cd050882.8e-056294
PTKc_EGFRcd051080.00016316
PTKc_HER2cd051090.00016288
PTKc_HER4cd051100.00076312
PTKc_Chkcd050839.9e-056278
STKc_CDK10cd078453.7e-116289
STKc_TEY_MAPK_plantcd078582.5e-116317
PTKc_InsR_likecd050324.3e-067278
PTKc_EphR_Bcd050650.000517299
PTKc_Lck_Blkcd050670.000297295
PTKc_Frk_likecd050681.8e-067279
PTKc_Fyn_Yrkcd050706.3e-057279
PTKc_Srccd050710.000327283
PTKc_Ror1cd050906.2e-057268
PTKc_TrkBcd050933.8e-057289
PTKc_DDR2cd050950.000467292
PTKc_DDR_likecd050970.000357277
PTKc_Itkcd051121.1e-077292
PTKc_Btk_Bmxcd051132.5e-057275
STKc_Sty1_Hog1cd078561.2e-077291
STKc_CDC2L6cd078677.6e-057276
STKc_CDK8cd078689.6e-057276
PTKc_Jak1_rpt2cd050790.000738296
PTKc_Tyk2_rpt2cd050805.8e-058297
PTKc_Jak2_Jak3_rpt2cd050813e-068296
PTKc_Tie1cd050899.9e-068296
STKc_MST1_2cd066121e-168276
STKc_MAP4K3_likecd066131.2e-148275
STKc_ASKcd066248.9e-238276
STKc_TNIKcd066371.7e-088276
STKc_ERK1_2_likecd078495e-108310
STKc_ERK5cd078559.4e-118315
STKc_BUR1cd078663.8e-128276
STKc_MRCK_alphacd056235.5e-099337
STKc_NDR1cd056283.1e-079327
PKc_MAPKKcd066052.8e-119281
STKc_SLK_likecd066111.3e-139290
PKc_MKK4cd066165.4e-089293
PKc_MKK3_6cd066174e-079297
PKc_MEKcd066153.2e-109292
PKc_MKK5cd066191.9e-059302
PKc_MAPKK_plant_likecd066239.4e-199281
STKc_MST4cd066405e-129299
STKc_MST3cd066415.1e-119299
STKc_STK25-YSK1cd066421.2e-149299
STKc_SLKcd066435.7e-109293
STKc_MEKK2cd066522.3e-099277
STKc_MAP4K3cd066451.1e-079275
STKc_MEKK3_like_1cd066536.8e-109276
STKc_PCTAIRE_likecd078442.6e-149276
STKc_PFTAIRE1cd078691.7e-069288
STKc_PFTAIRE2cd078704.8e-099276
STKc_JNK1cd078754.3e-059316
SPS1COG05155.6e-629436
PTKc_Tec_likecd050592.6e-0610257
PTKc_Tec_Rlkcd051141.2e-0510275
STKc_phototropin_likcd055744.4e-1110284
STKc_ROCK_NDR_likecd055731.6e-1210318
STKc_PKAcd055806.2e-1510301
STKc_PDK1cd055812.9e-2610276
STKc_LATScd055981.5e-0610321
STKc_NDR_likecd055995.5e-0810321
STKc_Sid2p_Dbf2pcd056009.4e-0510302
STKc_MASTcd056092e-1810322
STKc_PRKX_likecd056122.8e-1710302
STKc_CRIKcd056013.9e-1010332
STKc_MRCK_betacd056241.1e-0710336
STKc_DMPK_likecd055977.4e-0910336
STKc_NDR2cd056271.1e-0610379
STKc_NDR_like_fungalcd056292.2e-0610379
STKc_myosinIII_likecd066083e-1110276
STKc_MST3_likecd066091.6e-1810296
STKc_OSR1_SPAKcd066101.5e-1510276
PKc_MAPKK_Pek1_likecd066212.8e-1310284
PKc_MAPKK_PBS2_likecd066222.8e-1010297
STKc_NAK1_likecd069174e-1310296
STKc_CDKLcd078331.2e-1610276
STKc_CdkB_plantcd078371.3e-1310277
STKc_CDC2L1cd078431.2e-1110276
STKc_CDKL2_3cd078468.7e-1510276
STKc_CDKL1_4cd078471.3e-1910276
STKc_CDKL5cd078482.9e-1010276
STKc_CDK12cd078644.9e-1410276
STKc_CDK6cd078626.3e-0610276
STKc_PCTAIRE3cd078712.7e-0810276
STKc_PCTAIRE2cd078729.5e-0810296
STKc_PCTAIRE1cd078732.3e-0610290
STKc_JNK3cd078749e-0610347
STKc_Nek6_Nek7cd082249.5e-1610279
PTKc_RETcd050450.00111278
PKc_STEcd051225.5e-3111275
STKc_Yank1cd055784.9e-1911276
STKc_GRK4_likecd056055.9e-2311324
STKc_MSK1_Ncd056132.2e-0911292
STKc_cPKC_alphacd056155.9e-0911323
STKc_GRK4cd056311.9e-1511295
STKc_GRK5cd056321.5e-1511295
STKc_GRK6cd056303.5e-1411294
STKc_MAPKKKcd066068.5e-3811276
STKc_Cdc7_likecd066272.9e-1911276
STKc_MAPKKK_Byr2_likcd066284.1e-2411276
STKc_YSK4cd066315.4e-1411276
STKc_MEKK3cd066514.9e-1311278
STKc_CCRKcd078321.4e-1711277
STKc_MAPKcd078342.3e-1311315
STKc_Pho85cd078368.4e-2011276
STKc_CDK5cd078391.1e-1011276
STKc_CDK7cd078416.6e-1711289
STKc_CDK8_likecd078421.9e-1011276
STKc_MPK1cd078576.1e-1011312
STKc_NLKcd078537.6e-0811320
STKc_CDK2_3cd078603.2e-1811276
STKc_TDY_MAPK_plantcd078595.8e-1011321
STKc_CDK4cd078634.8e-0911276
STKc_Nekcd082156.7e-4511276
STKc_Nek2cd082174.5e-1711276
STKc_Nek1cd082182.7e-2911276
STKc_Nek3cd082191.1e-2511276
STKc_Nek8cd082208e-1811276
STKc_Nek9cd082212.1e-1211276
STKc_Nek5cd082253.4e-2611276
STKc_Nek4cd082235.5e-2311276
STKc_Nek10cd085286.5e-1011273
STKc_CNK2-likecd085302.6e-1311276
PTKc_Src_likecd050344.8e-0512274
PTKc_Axl_likecd050350.0005712275
PTKc_Tyro3cd050743.1e-0512275
STKc_CMGCcd051189.6e-1912276
PTKc_Srm_Brkcd051487.2e-0612295
STKc_MSK_Ncd055839.1e-1112292
STKc_cPKCcd055871.1e-1312351
STKc_PKNcd055895.2e-1112322
STKc_MSK2_Ncd056144.3e-1012343
STKc_cPKC_betacd056167.7e-0812352
STKc_MEKK3_likecd066256.7e-2012276
STKc_CDK_likecd078291.2e-2212276
STKc_MOKcd078311.9e-1212276
STKc_CDK1_likecd078357.6e-2012276
STKc_CDK4_6_likecd078388.1e-1412276
STKc_CDK9_likecd078406.4e-1712276
STKc_MAK_likecd078306.6e-1512276
STKc_CDK1_eukcd078617.9e-2112276
STKc_Nek11cd082229.9e-1812276
STKc_Nek6cd082284e-1012279
STKc_Nek7cd082292.4e-1112276
STKc_FA2-likecd085296.7e-1512276
PK_STRADcd082166.7e-0513297
PK_STRAD_alphacd082270.0007513357
STKc_MEKK4cd066268.2e-1514276
STKc_RSK_Ncd055825.2e-1615350
STKc_p70S6Kcd055842.4e-2115324
PTKccd001921e-0816272
PTKc_Ack_likecd050407.5e-1016254
PTKc_Fes_likecd050415.4e-0616273
PTKc_Tiecd050472.4e-0516278
PTKc_Syk_likecd050600.0007816262
PTK_Jak2_Jak3_rpt1cd050780.0003916272
PTKc_Fescd050841e-0516273
PTKc_Fercd050851.5e-0516276
PTKc_Sykcd051160.000316283
STKc_PKCcd055703.1e-1416322
STKc_PKBcd055717.2e-1816339
STKc_nPKC_etacd055904.3e-1716335
STKc_nPKC_epsiloncd055912.7e-0916335
STKc_nPKC_theta_deltcd055921.4e-1316324
STKc_PKB_alphacd055949.1e-1216337
STKc_PKB_betacd055953.1e-0916339
STKc_PKB_gammacd055931e-0916341
STKc_SGKcd055752.3e-0916334
STKc_SGK1cd056021.5e-0816336
STKc_SGK2cd056032.5e-1016327
STKc_SGK3cd056043.6e-0716336
STKc_aPKCcd055889.5e-1016352
STKc_aPKC_zetacd056177e-0916358
STKc_aPKC_iotacd056183.5e-0716358
STKc_nPKC_thetacd056197.5e-1016325
STKc_nPKC_deltacd056208.6e-0616324
STKc_MEKK1cd066301.8e-1316277
STKc_MEKK1_plantcd066321.9e-1616276
STKc_MAPKKK_Bck1_likcd066296.6e-1016276
STKc_beta_ARKcd056063.8e-0917295
STKc_GRK3cd056331.4e-0717296
PKccd001801.1e-6918274
PTKc_Lyncd050722e-0518274
PTKc_Zap-70cd051152e-0518285
STKc_AGCcd051233e-2518276
STKc_cGK_PKGcd055724.6e-1618283
STKc_MAST_likecd055791.3e-1818281
STKc_YPK1_likecd055851e-0918321
STKc_Sck1_likecd055861.9e-0818383
STKc_GRKcd055773.8e-1318290
STKc_GRK7cd056072.1e-1618303
STKc_GRK1cd056089.7e-1718293
STKc_Rim15_likecd056111.8e-0718280
PTKc_Yescd050692.3e-0522279
PTKc_Hckcd050734.7e-0523271
PDZ_signalingcd009921.5e-21488568
PDZcd001361.6e-12499568
SH3cd001747.4e-18616679
GmkCOG01946.6e-11731924
GMPKcd000718.3e-17741907
Pkinasepfam000694.7e-8312276
L27pfam028283.9e-17346397
L27pfam028289.4e-19405454
PDZpfam005953.8e-21490568
SH3_1pfam000187e-05618674
Guanylate_kinpfam006255.2e-82739913
Pkinase_Tyrpfam077143.2e-1212271
TyrKcsmart002197.7e-1212271
STYKcsmart002211.6e-8912276
S_TKcsmart002203.1e-9922276
KINDsmart007504.4e-05102284
L27smart005693.6e-15346401
L27smart005692.4e-16405458
PDZsmart002281e-17487571
SH3smart003262.4e-15613680
SH3_2pfam076534.7e-14616679
GuKcsmart000722.8e-76738914

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_058719Diseasep.ARG28LEUFG syndrome 4 (FGS4)
Swiss-ProtVAR_062998Diseasep.ASP710GLYMental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Swiss-ProtVAR_041956Polymorphismp.GLY96VALN/A
Swiss-ProtVAR_062997Diseasep.PRO396SERMental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)
Swiss-ProtVAR_062996Diseasep.TYR268HISMental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)



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