Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for O75815

Entry ID Method Resolution Chain Position Source
3T6A X-ray 240 A A/B/C/D 502-825 PDB
AF-O75815-F1 Predicted AlphaFoldDB

701 variants for O75815

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1455153382
CA341361729
2 A>V No ClinGen
gnomAD
rs201541851
CA956007
3 A>G No ClinGen
ExAC
gnomAD
rs746582573
CA27164323
3 A>T No ClinGen
Ensembl
rs972946363
CA27164320
5 K>I No ClinGen
TOPMed
rs1227969371
CA341361705
6 F>L No ClinGen
gnomAD
rs151322895
CA956006
6 F>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA956005
rs779717505
8 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs1435872626
CA341361680
10 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1365929176
CA341361677
11 R>K No ClinGen
gnomAD
rs755722083
CA956004
12 N>K No ClinGen
ExAC
gnomAD
rs745540392
CA956003
13 M>V No ClinGen
ExAC
gnomAD
CA956002
rs772621684
14 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs756756546
CA341361631
CA341361632
17 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341361630
rs1170005444
18 Q>K No ClinGen
gnomAD
rs751128356
CA955999
19 F>L No ClinGen
ExAC
gnomAD
CA341361621
rs751128356
19 F>V No ClinGen
ExAC
gnomAD
TCGA novel 22 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA955997
rs371020036
24 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758838087
CA955996
25 M>T No ClinGen
ExAC
gnomAD
CA341361587
rs1480531993
25 M>V No ClinGen
TOPMed
gnomAD
rs988166056
CA27164318
27 L>I No ClinGen
Ensembl
CA955995
rs367834080
28 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA27164317
rs867162991
31 R>G No ClinGen
TOPMed
CA955991
rs766770453
35 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA341361522
rs766770453
35 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA341361511
rs1217440680
36 E>D No ClinGen
gnomAD
CA27164315
rs974770735
36 E>K No ClinGen
TOPMed
rs144928860
CA955990
37 H>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144928860
CA341361506
37 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955989
rs111346378
38 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA955988
COSM913415
rs202034375
38 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1368389547
CA341361490
40 D>G No ClinGen
gnomAD
rs1571033426
CA341361492
40 D>H No ClinGen
Ensembl
rs775304793
CA955986
41 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA341361485
rs1309479901
41 A>T No ClinGen
TOPMed
gnomAD
rs775304793
CA955987
41 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs769547395
CA341361447
46 S>C No ClinGen
ExAC
gnomAD
CA955984
rs769547395
46 S>F No ClinGen
ExAC
gnomAD
CA955982
rs780810028
47 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs770584562
CA955980
48 H>R No ClinGen
ExAC
gnomAD
CA341361430
rs1206172281
COSM198554
49 G>D Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA341361427
rs1571033349
50 T>P No ClinGen
Ensembl
CA341361421
rs1483027319
51 L>I No ClinGen
gnomAD
CA341361407
rs777183149
53 R>L No ClinGen
ExAC
gnomAD
rs777183149
CA955978
53 R>Q No ClinGen
ExAC
gnomAD
rs746465101
CA955979
53 R>W No ClinGen
ExAC
gnomAD
CA341361399
COSM1667714
rs1218493045
54 K>N ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA341361394
rs1227639691
55 K>R No ClinGen
gnomAD
CA955977
rs758891472
57 G>D No ClinGen
ExAC
gnomAD
CA341361374
rs1203867650
58 P>L No ClinGen
TOPMed
CA341361367
rs1456108184
59 P>L No ClinGen
TOPMed
CA955976
rs753125244
59 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755388139
CA955974
60 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA955973
rs754308137
60 P>R No ClinGen
ExAC
gnomAD
CA955972
rs766647597
61 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs760982104
CA341361350
62 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs534916474
CA27164312
63 S>F No ClinGen
gnomAD
rs139529955
CA341361344
64 C>R No ClinGen
ESP
TOPMed
gnomAD
CA27164311
rs139529955
64 C>S No ClinGen
ESP
TOPMed
gnomAD
CA955970
rs750476398
64 C>Y No ClinGen
ExAC
gnomAD
rs767514429
CA955969
68 S>R No ClinGen
ExAC
CA341361290
rs1470442522
71 G>S No ClinGen
TOPMed
CA341361276
rs1467283654
73 L>F No ClinGen
TOPMed
CA955968
rs762001108
73 L>H No ClinGen
ExAC
TOPMed
gnomAD
rs141721897
CA955964
75 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141721897
CA955966
75 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955965
rs141721897
75 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955963
rs563397599
77 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA27164308
rs749596481
80 R>Q No ClinGen
TOPMed
gnomAD
rs771455481
CA955960
COSM1184540
80 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA341361232
rs1315683385
81 Q>* No ClinGen
TOPMed
CA341361230
rs1557649986
81 Q>R No ClinGen
Ensembl
rs370836321
CA955959
83 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1397361066
CA341361213
84 P>T No ClinGen
gnomAD
rs755552707
CA955957
87 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA341361178
rs1319259420
89 G>C No ClinGen
gnomAD
CA955956
rs754187653
90 I>L No ClinGen
ExAC
gnomAD
rs1035610378
CA27164306
90 I>T No ClinGen
TOPMed
gnomAD
CA955955
rs780596160
91 Q>P No ClinGen
ExAC
gnomAD
rs756308329
COSM913414
CA955954
94 P>L Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA955953
rs750587834
95 W>R No ClinGen
ExAC
gnomAD
rs112584760
CA955952
96 Q>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1247526337
CA341361123
97 D>A No ClinGen
TOPMed
gnomAD
rs1247526337
CA341361122
97 D>G No ClinGen
TOPMed
gnomAD
TCGA novel 97 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs113071736
CA955950
98 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs138811422
CA955951
98 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776366339
CA341361105
100 G>D No ClinGen
ExAC
gnomAD
CA955948
rs201873210
100 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776366339
CA955947
100 G>V No ClinGen
ExAC
gnomAD
CA955945
COSM1344976
rs370899092
101 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA955944
rs772732357
104 T>N No ClinGen
ExAC
TOPMed
gnomAD
CA341360850
rs1375850965
108 P>R No ClinGen
gnomAD
CA955922
rs773949793
108 P>S No ClinGen
ExAC
gnomAD
CA955921
rs149161122
109 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs150434867
CA955920
111 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341360818
rs1250727188
113 P>L No ClinGen
gnomAD
rs1482429086
CA341360821
113 P>S No ClinGen
Ensembl
rs1190871196
CA341360816
114 T>A No ClinGen
TOPMed
rs1483808231
CA341360785
118 V>A No ClinGen
gnomAD
CA341360783
rs1273145590
119 K>Q No ClinGen
gnomAD
CA341360780
rs1266024909
119 K>T No ClinGen
TOPMed
rs1216288045
CA341359767
126 I>L No ClinGen
TOPMed
gnomAD
CA955878
rs759011238
126 I>T No ClinGen
ExAC
gnomAD
rs1216288045
CA341359768
126 I>V No ClinGen
TOPMed
gnomAD
CA27155536
rs879059951
127 M>L No ClinGen
TOPMed
rs777194461
CA955877
127 M>T No ClinGen
ExAC
gnomAD
CA341359749
rs1367133941
128 D>E No ClinGen
gnomAD
CA27155535
rs941343350
130 T>I No ClinGen
gnomAD
rs1570944412
CA341359740
130 T>P No ClinGen
Ensembl
CA955874
rs200280259
132 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA27155534
rs1047131934
136 K>E No ClinGen
Ensembl
CA955872
rs748421416
137 E>K No ClinGen
ExAC
CA955871
rs779051725
141 E>* No ClinGen
ExAC
gnomAD
CA341359666
rs779051725
141 E>K No ClinGen
ExAC
gnomAD
rs768748770
CA955870
141 E>V No ClinGen
ExAC
gnomAD
rs749394399
CA955869
142 L>R No ClinGen
ExAC
gnomAD
CA341359650
rs1188622769
144 L>V No ClinGen
TOPMed
CA341359643
rs1482173419
145 S>N No ClinGen
gnomAD
rs757265824
CA955867
146 S>G No ClinGen
ExAC
gnomAD
rs1308077174
CA341359631
147 E>K No ClinGen
TOPMed
gnomAD
CA955865
rs777735238
149 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs758318530
CA955864
150 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA955862
rs768094406
150 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA955863
rs768094406
150 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs754501424
CA955861
151 S>R No ClinGen
ExAC
gnomAD
TCGA novel 153 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA955857
rs368469194
156 H>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368839525
CA955855
157 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs374784683
CA955854
158 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA955853
rs147932660
158 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768817148
CA341359547
159 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA955850
rs375150823
161 R>* No ClinGen
ESP
ExAC
gnomAD
TCGA novel 161 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341359539
rs1252925845
161 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA341359443
rs1363598025
163 V>L No ClinGen
TOPMed
rs763106218
CA955832
164 S>A No ClinGen
ExAC
gnomAD
CA341359417
rs1382802813
167 L>V No ClinGen
gnomAD
CA341359410
rs1311732508
168 V>L No ClinGen
TOPMed
TCGA novel 169 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1320491741
CA341359397
170 R>* Variant assessed as Somatic; 5.004e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA955831
rs775906391
170 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1387636759
CA341359383
172 G>D No ClinGen
gnomAD
rs1289790834
CA341359379
173 D>H No ClinGen
TOPMed
gnomAD
CA27155226
rs999870732
176 V>D No ClinGen
gnomAD
rs769965474
CA955830
177 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA955829
rs142666440
177 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341359317
rs1445317270
178 D>E No ClinGen
gnomAD
rs1300664764
CA341359305
179 S>F No ClinGen
gnomAD
CA955828
rs773271415
181 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA27155225
rs773271415
181 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA955826
rs558886347
182 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs778600216
CA955825
183 P>S No ClinGen
ExAC
gnomAD
rs768301429
CA955824
184 G>A No ClinGen
ExAC
gnomAD
rs1205479873
CA341359252
184 G>R No ClinGen
gnomAD
CA955823
rs748914550
185 N>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 188 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA27155224
rs1018397481
188 L>V No ClinGen
TOPMed
gnomAD
CA341359174
rs1296176516
189 T>I No ClinGen
gnomAD
rs1225932897
CA341359163
190 C>Y No ClinGen
gnomAD
CA955821
rs755613955
191 Q>L No ClinGen
ExAC
gnomAD
CA341359088
rs1422446849
195 L>F No ClinGen
TOPMed
rs200436960
CA341359074
196 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200436960
CA955820
196 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs202125199
CA955819
196 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341359061
rs1305200266
197 Q>R No ClinGen
TOPMed
gnomAD
CA341358995
rs1370058718
201 I>L No ClinGen
gnomAD
rs375478012
CA955816
203 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751903716
CA955817
203 R>W No ClinGen
ExAC
gnomAD
rs1247935069
CA341358955
205 V>F No ClinGen
TOPMed
TCGA novel 206 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1430666938
CA341358948
206 L>R No ClinGen
gnomAD
rs142078116
CA955815
207 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000966756
rs113172289
CA955812
210 E>K No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs113172289
CA955813
210 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA955811
rs776858691
211 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 212 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341358876
rs1448817125
213 S>G No ClinGen
TOPMed
rs772002067
CA955810
214 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs769831657
CA955809
214 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA27155222
rs769831657
214 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs139298422
CA27155221
215 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139298422
CA955807
215 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955806
rs749146552
216 Q>R No ClinGen
ExAC
gnomAD
CA341358806
rs1233087675
218 Q>H No ClinGen
TOPMed
gnomAD
CA955804
rs769449600
219 F>I No ClinGen
ExAC
gnomAD
CA955803
rs376886380
219 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955802
rs190069670
220 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA955801
rs756840770
221 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs778412538
CA955799
222 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA955800
rs751980713
222 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA341358760
rs751980713
222 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341358704
rs1570939470
225 D>A No ClinGen
Ensembl
rs61752468
CA955798
225 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341358709
rs61752468
225 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1281224597
CA341358660
228 P>L No ClinGen
TOPMed
rs148087483
CA955795
229 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341358640
rs1201293984
230 L>R No ClinGen
gnomAD
rs1480594961
CA341358635
CA341358636
231 V>L No ClinGen
gnomAD
CA27155219
rs925862406
232 R>C No ClinGen
gnomAD
CA955792
rs201705203
232 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774148679
CA341358616
233 C>G No ClinGen
ExAC
gnomAD
rs774148679
CA955791
233 C>R No ClinGen
ExAC
gnomAD
rs35588942
CA955790
233 C>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA27155218
rs986897156
234 Y>C No ClinGen
TOPMed
rs376976363
CA955788
235 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769388241
CA955787
236 G>D No ClinGen
ExAC
gnomAD
rs75635406
CA27155217
237 N>T No ClinGen
Ensembl
CA955786
rs201358526
238 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341358561
rs201358526
238 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955785
rs137969427
238 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA955783
rs371841836
239 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs770345633
CA955784
239 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1178412716
CA341358528
241 I>M No ClinGen
gnomAD
CA341358530
rs1403803649
241 I>S No ClinGen
gnomAD
rs1451888176
CA341358538
241 I>V No ClinGen
gnomAD
CA341358524
rs1470130604
242 S>A No ClinGen
gnomAD
rs778087104
CA955782
243 Q>K No ClinGen
ExAC
gnomAD
rs758983074
CA955781
243 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA341358471
rs1363914670
246 G>D No ClinGen
gnomAD
CA955778
rs150484354
247 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753973727
CA955777
248 I>V No ClinGen
ExAC
gnomAD
rs1012322279
CA27155215
249 I>T No ClinGen
TOPMed
CA955775
rs756132846
256 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs374296101
CA27155213
257 V>M No ClinGen
ESP
CA341358338
rs1283735442
258 P>R No ClinGen
gnomAD
rs763870383
CA955773
258 P>S No ClinGen
ExAC
gnomAD
CA955770
rs139230782
260 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775455387
CA955771
260 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA341358325
rs1453221779
261 C>Y No ClinGen
gnomAD
CA955769
rs759394550
265 H>R No ClinGen
ExAC
CA955768
rs776136824
267 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs746439935
CA955766
268 T>P No ClinGen
ExAC
gnomAD
CA955765
rs747331253
269 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1194402535
CA341358264
270 P>L No ClinGen
TOPMed
CA341358262
rs1442243031
271 G>S No ClinGen
gnomAD
rs748639520
CA955763
272 Q>E No ClinGen
ExAC
gnomAD
rs1184785807
CA341358250
273 A>T No ClinGen
gnomAD
rs139249000
CA341358242
274 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955761
rs139249000
274 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs62001028
CA955762
274 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749717638
CA955760
275 E>D No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 276 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA955759
rs2137623
279 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA27155210
rs910941559
281 G>R No ClinGen
TOPMed
rs756361530
CA955758
283 P>L No ClinGen
ExAC
gnomAD
CA341358187
rs1220465171
283 P>S No ClinGen
gnomAD
CA955754
rs752627611
288 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA27155209
rs890551701
288 R>S No ClinGen
Ensembl
CA955753
rs765219365
290 S>G No ClinGen
ExAC
gnomAD
rs1345497031
CA341358142
290 S>R No ClinGen
gnomAD
CA955752
rs143405033
290 S>T No ClinGen
1000Genomes
ExAC
gnomAD
rs200443024
CA955751
291 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs765911755
CA955750
292 T>I No ClinGen
ExAC
gnomAD
CA341358121
rs1366941246
294 G>S No ClinGen
gnomAD
CA341358112
rs1163643323
295 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs115932818
CA955748
296 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341358100
rs1570938913
297 Q>R No ClinGen
Ensembl
CA341358089
rs1188738667
299 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA955747
rs367652107
299 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA27155208
rs925831275
300 E>K No ClinGen
Ensembl
rs761473184
CA341358058
303 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs372046471
CA955743
306 G>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955742
rs780497082
307 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs368488209
CA955741
307 N>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746072280
CA955740
308 L>H No ClinGen
ExAC
TOPMed
gnomAD
CA341274969
rs1291857084
313 E>G No ClinGen
gnomAD
rs1350307820
CA341274955
315 S>T No ClinGen
TOPMed
rs1405974333
CA341274946
316 G>D No ClinGen
gnomAD
rs777856449
CA955715
318 Q>K No ClinGen
ExAC
gnomAD
rs1235363247
CA341274924
319 P>L No ClinGen
TOPMed
CA955713
rs144882670
320 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 320 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs779919718
CA955712
321 C>Y No ClinGen
ExAC
gnomAD
rs767210703
CA955710
322 L>V No ClinGen
ExAC
gnomAD
TCGA novel 323 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341274905
rs1458212435
323 D>Y No ClinGen
gnomAD
CA955708
rs761587439
324 H>R No ClinGen
ExAC
gnomAD
rs751064191
CA955707
325 M>T No ClinGen
ExAC
gnomAD
rs763637477
CA955706
327 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA341274866
rs1468429424
328 R>T No ClinGen
TOPMed
CA955705
rs762437239
329 R>K No ClinGen
ExAC
gnomAD
CA955704
rs776052693
332 S>F No ClinGen
ExAC
gnomAD
rs765677379
CA955703
333 L>F No ClinGen
ExAC
gnomAD
rs1240232898
CA341274835
333 L>P No ClinGen
gnomAD
rs765677379
CA341274838
333 L>V No ClinGen
ExAC
gnomAD
rs1286165813
CA341274820
335 A>V No ClinGen
TOPMed
gnomAD
CA341274816
rs1381317048
336 H>P No ClinGen
gnomAD
CA955702
rs371110361
338 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA26831700
rs965755739
340 S>C No ClinGen
TOPMed
gnomAD
rs777014697
CA955701
340 S>N No ClinGen
ExAC
gnomAD
CA341274788
rs777014697
340 S>T No ClinGen
ExAC
gnomAD
rs1288632251
CA341274781
341 Y>S No ClinGen
gnomAD
rs773458842
CA955698
343 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs747213509
CA955699
343 P>S No ClinGen
ExAC
gnomAD
CA955697
rs772192196
344 I>T No ClinGen
ExAC
gnomAD
rs781319547
CA955673
345 G>D No ClinGen
ExAC
gnomAD
rs1034222794
CA26830968
346 C>R No ClinGen
TOPMed
gnomAD
CA26830937
rs1002786487
346 C>W No ClinGen
TOPMed
rs201005104
CA955672
346 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
CA341274462
rs1570931037
347 K>E No ClinGen
Ensembl
CA341274460
rs1234418599
347 K>R No ClinGen
TOPMed
rs1251165337
CA341274454
348 L>V No ClinGen
TOPMed
rs546279583
CA955671
349 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs183057886
CA955669
350 P>S No ClinGen
1000Genomes
ExAC
gnomAD
CA955668
rs752199717
353 S>L No ClinGen
ExAC
gnomAD
rs143458770
CA955665
354 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1305103844
CA341274414
355 V>M No ClinGen
gnomAD
CA26830897
rs945781350
356 D>A No ClinGen
Ensembl
rs142961077
CA955664
RCV001812396
358 S>N No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1395788779
CA341274392
358 S>R No ClinGen
gnomAD
CA26830895
rs988245328
359 P>S No ClinGen
Ensembl
rs760974846
CA955663
360 C>G No ClinGen
ExAC
TOPMed
gnomAD
rs767740925
CA955661
361 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1266337338
CA341274356
364 P>H No ClinGen
gnomAD
CA341274359
rs1479944849
364 P>T No ClinGen
gnomAD
CA341274337
rs1451700311
367 R>K No ClinGen
gnomAD
CA341274330
rs763193150
368 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA955657
rs763193150
368 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs768825761
CA955658
368 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs140733181
CA955654
371 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA955653
rs777448396
372 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs969789871
CA341274301
373 A>S No ClinGen
TOPMed
gnomAD
rs969789871
CA26830786
373 A>T No ClinGen
TOPMed
gnomAD
rs910922440
CA26830776
374 L>V No ClinGen
TOPMed
CA341274286
rs1437280962
375 S>R No ClinGen
gnomAD
CA341274285
rs1220868201
376 P>S No ClinGen
TOPMed
CA955652
rs771948696
380 R>Q No ClinGen
ExAC
gnomAD
CA26830774
rs779491839
380 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA341274255
rs1389652235
381 R>T No ClinGen
gnomAD
CA341274249
rs1331877984
382 V>F No ClinGen
TOPMed
gnomAD
rs1331877984
CA341274250
382 V>I No ClinGen
TOPMed
gnomAD
CA955647
rs780475040
386 A>S No ClinGen
ExAC
gnomAD
COSM913411
CA955648
rs780475040
386 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA341274215
rs1174002822
387 R>S No ClinGen
gnomAD
CA341274211
rs1362765321
388 A>G No ClinGen
gnomAD
CA955646
rs756648236
388 A>P No ClinGen
ExAC
gnomAD
CA955645
CA341274209
rs375645584
389 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA26830696
rs934253399
390 E>G No ClinGen
TOPMed
rs767751704
CA955644
391 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1410207386
CA341274185
393 R>K No ClinGen
Ensembl
rs1570930663
CA341274168
396 D>N No ClinGen
Ensembl
CA955643
rs762278739
397 S>G No ClinGen
ExAC
gnomAD
rs751726491
CA955642
397 S>N No ClinGen
ExAC
gnomAD
TCGA novel 399 L>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 400 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341274114
rs1201285560
403 P>L No ClinGen
gnomAD
rs1265341111
CA341274117
403 P>S No ClinGen
TOPMed
gnomAD
rs1265341111
CA341274119
403 P>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA955641
rs372966690
404 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763058568
CA955640
405 P>S No ClinGen
ExAC
gnomAD
rs1377668912
CA341274098
406 K>R No ClinGen
gnomAD
CA955639
rs775742791
407 P>L No ClinGen
ExAC
gnomAD
rs28446112
CA26830660
408 C>R No ClinGen
Ensembl
CA341274061
rs1015042958
410 V>L No ClinGen
gnomAD
CA26830654
rs1015042958
410 V>M No ClinGen
gnomAD
rs141567715
CA955636
411 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341274047
rs141567715
411 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200778656
CA955637
411 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA955634
rs771756224
414 K>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748029100
CA955633
415 V>F No ClinGen
ExAC
gnomAD
rs148367926
CA955632
417 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341273905
rs1443287375
422 W>* No ClinGen
gnomAD
CA341273899
rs1239630194
423 L>F No ClinGen
gnomAD
CA955630
rs748759310
423 L>P No ClinGen
ExAC
gnomAD
CA955628
rs140209686
424 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955627
rs140209686
424 N>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341273844
rs1557843987
427 A>S No ClinGen
Ensembl
rs1380479060
CA341273813
429 Y>* No ClinGen
gnomAD
CA341273791
rs1448480679
431 E>A No ClinGen
TOPMed
gnomAD
CA341273797
rs1285809494
431 E>K No ClinGen
gnomAD
rs1484630696
CA341273753
434 P>A No ClinGen
TOPMed
CA26830561
rs867634610
434 P>L No ClinGen
Ensembl
CA341273744
rs1360650285
434 P>L No ClinGen
gnomAD
CA341273740
rs1162350558
435 A>P No ClinGen
gnomAD
CA955621
rs374393884
435 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758714430
CA955620
438 T>A No ClinGen
ExAC
gnomAD
CA341273685
rs1475305257
439 G>V No ClinGen
gnomAD
rs1424417728
CA341273673
440 C>F No ClinGen
TOPMed
rs368993972
CA955618
441 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA955617
rs759724227
443 G>E No ClinGen
ExAC
gnomAD
CA341273635
rs1488725535
443 G>R No ClinGen
gnomAD
rs767507738
CA955615
444 A>T No ClinGen
ExAC
gnomAD
CA341273613
rs761451887
445 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA955614
rs761451887
445 K>Q No ClinGen
ExAC
TOPMed
gnomAD
CA26830480
rs928174348
446 L>P No ClinGen
Ensembl
rs768251210
CA955612
448 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341273545
rs775164598
450 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs775164598
CA955610
450 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA955609
rs547694353
451 Q>R No ClinGen
1000Genomes
ExAC
gnomAD
CA341273502
rs1302061646
453 S>R No ClinGen
gnomAD
CA341273491
rs1402573815
454 H>R No ClinGen
gnomAD
rs781484698
CA955608
455 T>K No ClinGen
ExAC
gnomAD
rs781484698
CA955607
455 T>R No ClinGen
ExAC
gnomAD
TCGA novel 456 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753999386
CA955606
456 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA341273463
rs1390308622
457 L>R No ClinGen
TOPMed
CA26830421
rs766452742
459 T>I No ClinGen
Ensembl
CA955605
rs140309627
463 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955604
VAR_050689
rs12062278
464 E>G No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs758871826
CA955603
465 A>V No ClinGen
ExAC
gnomAD
CA341273373
rs1268446489
466 P>A No ClinGen
gnomAD
rs1197472599
CA341273365
466 P>L No ClinGen
gnomAD
CA341273359
rs1489520972
467 G>D No ClinGen
gnomAD
rs1309473454
CA341273363
467 G>S No ClinGen
gnomAD
rs1211984033
CA341273352
468 P>S No ClinGen
TOPMed
rs138527879
CA955600
469 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA955599
rs138527879
469 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765608888
CA955601
469 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1437142951
CA341273339
470 N>H No ClinGen
gnomAD
rs1255984468
CA341273311
472 G>C No ClinGen
gnomAD
rs1220233961
CA341273306
472 G>V No ClinGen
gnomAD
CA955598
rs144741377
473 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955597
rs762737725
475 Y>C No ClinGen
ExAC
gnomAD
CA341273283
rs1176100499
475 Y>H No ClinGen
gnomAD
rs1353262395
CA341273233
479 D>V No ClinGen
gnomAD
rs774324851
CA955596
480 D>N No ClinGen
ExAC
gnomAD
CA955595
rs149396478
480 D>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955594
rs550240881
482 D>N No ClinGen
1000Genomes
ExAC
gnomAD
CA341273180
rs1178774267
484 E>K No ClinGen
TOPMed
CA341273165
rs1360237433
485 R>K No ClinGen
TOPMed
rs769501013
CA955592
486 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA341273147
rs1328647919
487 W>R No ClinGen
TOPMed
rs745328827
CA955591
488 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA955590
rs776226561
490 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA955588
rs747484719
492 A>V No ClinGen
ExAC
gnomAD
CA341273070
rs1557843569
494 M>I No ClinGen
Ensembl
CA955587
rs778488596
494 M>V No ClinGen
ExAC
gnomAD
rs1365063005
CA341273063
495 E>Q No ClinGen
TOPMed
CA341273027
rs772548512
CA955586
497 G>R No ClinGen
ExAC
gnomAD
rs1301436929
CA341272945
501 K>R No ClinGen
gnomAD
CA341272935
rs1222706772
502 G>R No ClinGen
gnomAD
CA26830293
rs769691162
504 F>S No ClinGen
TOPMed
gnomAD
rs1570929695
CA341272906
504 F>V No ClinGen
Ensembl
rs1448121249
CA341272895
505 V>M No ClinGen
gnomAD
rs375604944
CA955583
506 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341272869
rs1467827689
507 P>S No ClinGen
TOPMed
gnomAD
rs968639421
CA26830275
509 L>V No ClinGen
TOPMed
gnomAD
CA955580
rs751496023
512 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA955579
rs751496023
512 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs561393483
CA26830254
513 S>F No ClinGen
1000Genomes
gnomAD
CA341272775
rs1193262953
514 S>A No ClinGen
TOPMed
CA955578
rs138525821
514 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955577
rs762678929
515 F>L No ClinGen
ExAC
gnomAD
rs1179896048
CA341272757
515 F>L No ClinGen
gnomAD
rs752519228
CA955576
517 P>R No ClinGen
ExAC
gnomAD
rs764747428
CA955575
518 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA955574
rs759203304
518 N>S No ClinGen
ExAC
gnomAD
CA955572
rs200907769
519 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA341272717
rs1210857171
520 F>L No ClinGen
gnomAD
rs1241570587
CA341272714
520 F>S No ClinGen
gnomAD
rs1020163496
CA26830208
522 S>P No ClinGen
TOPMed
CA955571
rs776565886
527 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA26830179
rs776565886
527 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA955570
rs367828594
528 E>D No ClinGen
ESP
ExAC
gnomAD
CA955569
rs147997848
529 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1288533987
CA341272614
531 P>S No ClinGen
gnomAD
rs748486479
CA955568
534 T>I No ClinGen
ExAC
gnomAD
rs905626282
CA26830172
534 T>S No ClinGen
Ensembl
CA955566
rs768953701
536 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs200616305
CA26830149
536 M>T No ClinGen
1000Genomes
rs768953701
CA341272565
536 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs199987558
CA955565
539 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs143508660
CA26830148
539 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
rs199987558
CA341272530
539 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA955564
rs780208352
540 A>T No ClinGen
ExAC
gnomAD
rs1185616705
CA341272513
541 K>E No ClinGen
gnomAD
rs777621474
CA955561
544 F>V No ClinGen
ExAC
gnomAD
rs1264219096
CA341272446
546 N>D No ClinGen
gnomAD
CA955560
rs758352871
547 N>H No ClinGen
ExAC
TOPMed
gnomAD
rs765048777
CA955558
548 D>A No ClinGen
ExAC
gnomAD
COSM913409
CA341272409
rs1557843298
548 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA955556
rs753513831
549 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA955553
rs772883889
550 K>R No ClinGen
ExAC
gnomAD
rs772662965
CA955552
551 V>I No ClinGen
ExAC
gnomAD
rs1459354785
CA341272332
552 I>V No ClinGen
gnomAD
CA955551
rs762390483
553 A>T No ClinGen
ExAC
gnomAD
CA955550
rs774763104
554 Q>* No ClinGen
ExAC
gnomAD
rs1425332341
CA341272294
554 Q>R No ClinGen
gnomAD
rs749674466
CA955549
CA341272255
555 H>Q No ClinGen
ExAC
gnomAD
CA955547
rs575587868
556 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs781225763
CA955544
557 L>P No ClinGen
ExAC
gnomAD
TCGA novel 557 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs745898120
CA955545
557 L>V No ClinGen
ExAC
gnomAD
CA955543
rs757365063
558 S>N No ClinGen
ExAC
gnomAD
CA955541
rs778771461
559 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs1217184422
CA341272173
559 M>L No ClinGen
gnomAD
CA955542
rs748110712
559 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs116545384
CA955540
561 C>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1329463591
CA341272092
561 C>W No ClinGen
gnomAD
CA955527
rs776904312
567 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA26825902
rs150839082
567 L>P No ClinGen
ESP
TOPMed
gnomAD
CA341271402
rs1335187874
572 E>* No ClinGen
TOPMed
gnomAD
CA341271403
rs1335187874
572 E>Q No ClinGen
TOPMed
gnomAD
CA341271389
CA955526
rs770983286
573 M>I No ClinGen
ExAC
gnomAD
CA955525
rs747069441
574 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA955524
rs778839573
574 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs754900116
CA955523
575 R>K No ClinGen
ExAC
TOPMed
gnomAD
rs764367470 575 R>missing Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs756016235
CA955519
577 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs779976382
CA955520
577 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA26825884
rs1045069031
577 M>T No ClinGen
Ensembl
rs779976382
CA955521
577 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs767337640
CA955518
578 G>A No ClinGen
ExAC
gnomAD
rs767337640
CA955517
578 G>E No ClinGen
ExAC
gnomAD
CA955515
rs751035398
580 S>N No ClinGen
ExAC
gnomAD
rs1239236197
CA341271305
587 T>N No ClinGen
gnomAD
rs1570918810
CA341271308
587 T>P No ClinGen
Ensembl
rs200246434
CA955513
589 P>R No ClinGen
ExAC
gnomAD
TCGA novel 589 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs765579769
CA955511
591 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs765579769
CA341271280
591 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs776017261
CA955512
591 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs759950494
CA955510
592 H>P No ClinGen
ExAC
gnomAD
rs17110107
CA26825848
VAR_050690
593 Q>H No ClinGen
UniProt
TOPMed
dbSNP
CA955509
rs776773073
595 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA341271237
rs1457195095
595 R>H No ClinGen
TOPMed
gnomAD
rs1457195095
CA341271234
595 R>L No ClinGen
TOPMed
gnomAD
CA955506
rs536719438
599 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA955507
rs760765672
599 I>V No ClinGen
ExAC
gnomAD
CA955505
rs772245403
601 R>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146397531
CA955482
602 H>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA955481
rs137906211
603 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341270169
rs1291848166
604 T>A No ClinGen
gnomAD
CA341270170
rs1291848166
604 T>P No ClinGen
gnomAD
rs777540480
CA955479
605 M>I No ClinGen
ExAC
gnomAD
rs746635877
CA955480
605 M>L No ClinGen
ExAC
gnomAD
CA955477
rs779348233
607 I>M No ClinGen
ExAC
gnomAD
rs369665872
CA955478
607 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755495708
CA955475
608 G>S No ClinGen
ExAC
gnomAD
TCGA novel 609 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341270122
rs1375835945
612 D>H No ClinGen
TOPMed
rs1410751012
CA341270112
613 I>V No ClinGen
TOPMed
CA26822788
rs754388397
617 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs754388397
CA955473
617 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA341270082
rs1173139089
618 G>D No ClinGen
gnomAD
CA26822762
rs529105962
618 G>S No ClinGen
1000Genomes
CA341270070
rs1189546810
620 L>S No ClinGen
gnomAD
CA341270057
rs1278680477
622 D>N No ClinGen
TOPMed
rs1557836909
CA341270050
623 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs146027367
CA955469
623 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
RCV000883008
CA955468
rs147633962
624 A>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA341270019
rs1385494560
628 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs759525792
CA955464
634 A>V No ClinGen
ExAC
gnomAD
CA341269942
CA955462
rs139804620
639 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1275994277
CA341269944
639 D>G No ClinGen
gnomAD
CA341269948
rs1481357243
639 D>N No ClinGen
TOPMed
CA341269929
rs1375203849
641 M>I No ClinGen
gnomAD
rs1409408993
CA341269935
641 M>V No ClinGen
TOPMed
rs1459671189
CA341269910
644 L>F No ClinGen
gnomAD
RCV000950609
CA955461
rs146602562
645 Y>C No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA341269904
rs1168429762
645 Y>H No ClinGen
TOPMed
rs1466395168
CA341269897
646 S>A No ClinGen
gnomAD
rs1358809609
CA341269880
648 S>L No ClinGen
gnomAD
CA341269876
rs1174152760
649 A>G No ClinGen
TOPMed
gnomAD
CA341269874
rs1174152760
649 A>V No ClinGen
TOPMed
gnomAD
CA955460
rs372252150
650 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955459
rs575537040
651 M>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs747604227
CA955458
654 L>M No ClinGen
ExAC
gnomAD
CA955457
rs368481630
654 L>P No ClinGen
ESP
ExAC
gnomAD
TCGA novel 655 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 655 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341269816
rs1407276647
658 Q>P No ClinGen
TOPMed
CA341268608
rs1342503689
663 E>D No ClinGen
gnomAD
rs1296365221
CA341268603
664 K>E No ClinGen
TOPMed
gnomAD
rs1382771517
CA341268601
664 K>R No ClinGen
gnomAD
rs760635585
CA955418
665 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs761657137
CA955415
668 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1169575759
CA341268557
668 A>V No ClinGen
TOPMed
gnomAD
rs762330740
CA341268541
670 R>P No ClinGen
ExAC
gnomAD
CA955412
rs762330740
670 R>Q No ClinGen
ExAC
gnomAD
rs139715406
CA955413
670 R>W No ClinGen
ESP
ExAC
CA955411
rs775087565
671 H>Y No ClinGen
ExAC
gnomAD
CA955410
rs769238156
673 Y>N No ClinGen
ExAC
TOPMed
gnomAD
CA341268502
rs1570903124
674 T>P No ClinGen
Ensembl
rs374978077
CA955409
675 Q>R No ClinGen
ESP
ExAC
gnomAD
CA341268480
rs1204326953
676 T>A No ClinGen
TOPMed
CA955407
rs771362553
678 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs925263186
CA26819814
680 Y>C No ClinGen
TOPMed
CA955406
rs747382431
681 E>Q No ClinGen
ExAC
rs1232637474
CA341268376
685 K>R No ClinGen
gnomAD
CA341268378
rs1232637474
685 K>T No ClinGen
gnomAD
rs1329369080
CA341268341
688 S>G No ClinGen
gnomAD
TCGA novel 692 H>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1420291396
CA341268302
693 E>K No ClinGen
TOPMed
CA341268294
rs1299150564
694 G>S No ClinGen
gnomAD
CA955391
rs758980462
697 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs148402464
CA955390
698 T>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341268248
rs1433250601
699 C>Y No ClinGen
TOPMed
TCGA novel 705 V>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA955389
rs771595802
705 V>G No ClinGen
ExAC
gnomAD
CA341268202
rs1360301540
706 S>A No ClinGen
TOPMed
CA955387
rs763985526
707 V>F No ClinGen
ExAC
TOPMed
gnomAD
COSM228268
CA955385
rs748394785
708 P>L skin [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA955384
rs779059824
711 M>K No ClinGen
ExAC
gnomAD
rs1487971464
CA341268166
712 P>L No ClinGen
TOPMed
gnomAD
CA341268168
rs1211692402
712 P>S No ClinGen
gnomAD
rs1237828290
CA341268163
713 L>F No ClinGen
gnomAD
CA955382
rs753923301
714 V>M No ClinGen
ExAC
gnomAD
CA341268152
rs1279907617
715 T>A No ClinGen
gnomAD
CA341268149
rs145893320
715 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA955381
rs145893320
715 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs145893320
CA341268150
715 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs143581051
CA26819510
718 E>D No ClinGen
ESP
gnomAD
CA955379
COSM1238292
rs751548960
719 R>C oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA26819491
rs763920350
719 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA955378
rs763920350
COSM1246012
719 R>L oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1249750305
CA341268115
720 Q>H No ClinGen
TOPMed
rs1452940862
CA341268070
727 T>S No ClinGen
TOPMed
CA955374
rs759045700
COSM3401095
COSM3401096
728 D>N Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA955372
rs766032359
729 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs377698383
CA955373
729 M>V No ClinGen
ESP
ExAC
gnomAD
CA955370
rs761229587
731 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs1188864980
COSM1344970
CA341268044
731 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA955369
RCV000961292
rs78349214
733 N>S No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA26819431
rs957157828
734 D>N No ClinGen
Ensembl
CA955366
rs748477671
737 C>Y No ClinGen
ExAC
gnomAD
CA955365
rs774570055
738 E>K No ClinGen
ExAC
gnomAD
rs1353929747
CA341267972
740 M>I No ClinGen
TOPMed
gnomAD
TCGA novel 740 M>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA955363
rs768794679
742 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA26819408
rs200578746
745 A>T No ClinGen
1000Genomes
gnomAD
rs749322059
CA955362
745 A>V No ClinGen
ExAC
gnomAD
rs532034172
CA955361
747 A>G No ClinGen
1000Genomes
ExAC
gnomAD
CA341267930
rs1361168549
747 A>T No ClinGen
TOPMed
CA341267928
rs532034172
747 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA341267926
rs1182583496
748 R>* No ClinGen
gnomAD
CA341267925
rs1275748004
748 R>P No ClinGen
TOPMed
gnomAD
CA341267924
rs1275748004
748 R>Q No ClinGen
TOPMed
gnomAD
CA955360
rs756227345
749 F>V No ClinGen
ExAC
gnomAD
CA341267908
rs1346312478
750 M>I No ClinGen
gnomAD
rs746946088
CA955359
750 M>T No ClinGen
ExAC
CA955358
rs777631950
751 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs185411561
CA26819382
751 A>V No ClinGen
1000Genomes
rs201785778
CA955355
752 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM3952739
rs201785778
CA955356
COSM3952738
752 E>Q ovary [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs754655432
CA955354
754 A>T No ClinGen
ExAC
gnomAD
rs919712226
CA26819369
755 D>A No ClinGen
TOPMed
CA955353
rs753581756
756 S>N No ClinGen
ExAC
gnomAD
CA955351
rs140641625
RCV001812916
758 R>Q No ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765980154
CA955352
758 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1242655091
CA341267861
759 M>L No ClinGen
gnomAD
rs773794690
CA955350
760 N>Y No ClinGen
ExAC
gnomAD
CA341267840
rs1213998119
761 A>V No ClinGen
gnomAD
CA955348
rs762201005
762 E>K No ClinGen
ExAC
gnomAD
rs774605474
CA26819344
764 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA341267816
rs1361981931
765 L>P No ClinGen
gnomAD
TCGA novel 766 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149846383
CA955324
770 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1336194393
CA341267272
770 P>S No ClinGen
TOPMed
gnomAD
rs1416659361
CA341267262
771 D>E No ClinGen
TOPMed
COSM913406
rs1375093904
CA341267269
771 D>N Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs759562164
CA955323
772 E>K No ClinGen
ExAC
gnomAD
TCGA novel 773 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA26815740
rs965616097
774 M>I No ClinGen
TOPMed
CA341267235
rs1358716358
775 N>S No ClinGen
gnomAD
rs150697615
CA955322
775 N>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147155903
CA955321
776 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA341267230
rs1332271481
776 E>K No ClinGen
TOPMed
gnomAD
CA26815701
rs748027776
777 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs778964260
CA955319
778 C>G No ClinGen
ExAC
gnomAD
CA341267216
rs1438891972
778 C>S No ClinGen
gnomAD
rs768510746
CA955318
779 K>R No ClinGen
ExAC
gnomAD
TCGA novel 779 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1480750965
CA341267199
780 T>I No ClinGen
gnomAD
rs1236462674
CA341267197
781 E>K No ClinGen
gnomAD
CA955316
rs749096646
785 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA955315
rs779816516
785 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs143568257
CA955311
789 G>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA341267134
rs1291606634
790 S>C No ClinGen
TOPMed
gnomAD
rs764599323
CA955309
790 S>N No ClinGen
ExAC
gnomAD
TCGA novel 791 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA341267118
rs1313454335
792 G>D No ClinGen
gnomAD
TCGA novel 794 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA955307
rs763261459
796 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1343281668
CA341267081
797 Q>H No ClinGen
gnomAD
rs1419388121
CA341267066
800 R>G No ClinGen
TOPMed
gnomAD
rs753081234
CA955306
801 Y>D No ClinGen
ExAC
TOPMed
CA341267055
rs1412643042
801 Y>F No ClinGen
gnomAD
CA955305
rs144562250
802 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs759641595
CA955304
804 F>C No ClinGen
ExAC
gnomAD
rs1475925155
CA341267035
804 F>L No ClinGen
gnomAD
CA955303
rs776977845
805 N>S No ClinGen
ExAC
gnomAD
rs769329876
CA26815602
806 Q>H No ClinGen
Ensembl
CA341267019
rs1485177013
806 Q>R No ClinGen
gnomAD
rs770901795
CA955302
811 L>F No ClinGen
ExAC
gnomAD
rs369490013
CA955301
812 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1627259
CA955298
rs367823753
813 R>C liver [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA955297
COSM913405
rs373868471
813 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1404406823
CA341266969
814 K>N No ClinGen
TOPMed
rs997152293
CA26815543
815 L>V No ClinGen
Ensembl
rs769751257
CA955296
816 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs547841302
CA955295
817 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA341266952
rs1454144973
817 P>L No ClinGen
gnomAD
rs1319878260
CA341266942
819 P>R No ClinGen
TOPMed
CA955294
rs780958961
819 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1462679652
CA341266937
820 V>A No ClinGen
gnomAD
CA955292
rs900177332
820 V>I No ClinGen
gnomAD
CA26815510
rs900177332
820 V>L No ClinGen
gnomAD
CA341266902
rs1192308751
825 L>P No ClinGen
gnomAD
CA955291
rs756667714
825 L>V No ClinGen
ExAC
gnomAD

No associated diseases with O75815

No regional properties for O75815

Type Name Position InterPro Accession
No domain, repeats, and functional sites for O75815

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cell junction, focal adhesion
  • Localization to focal adhesions depends on interaction with PTPRA
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
focal adhesion A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name Definition
guanyl-nucleotide exchange factor activity Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.
kinase binding Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
phosphotyrosine residue binding Binding to a phosphorylated tyrosine residue within a protein.

11 GO annotations of biological process

Name Definition
endothelin receptor signaling pathway A G protein-coupled receptor signaling pathway initiated by endothelin binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.
insulin receptor signaling pathway The series of molecular signals generated as a consequence of the insulin receptor binding to insulin.
lens morphogenesis in camera-type eye The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.
positive regulation of DNA replication Any process that activates or increases the frequency, rate or extent of DNA replication.
positive regulation of epidermal growth factor receptor signaling pathway Any process that activates or increases the frequency, rate or extent of epidermal growth factor receptor signaling pathway activity.
positive regulation of GTPase activity Any process that activates or increases the activity of a GTPase.
positive regulation of MAPK cascade Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the MAPK cascade.
positive regulation of peptidyl-serine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-serine.
response to xenobiotic stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
small GTPase mediated signal transduction The series of molecular signals in which a small monomeric GTPase relays a signal.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q58DL5 BCAR3 Breast cancer anti-estrogen resistance protein 3 homolog Bos taurus (Bovine) PR
Q8N5H7 SH2D3C SH2 domain-containing protein 3C Homo sapiens (Human) PR
Q9BRG2 SH2D3A SH2 domain-containing protein 3A Homo sapiens (Human) PR
Q9QZS8 Sh2d3c SH2 domain-containing protein 3C Mus musculus (Mouse) PR
Q9QZK2 Bcar3 Breast cancer anti-estrogen resistance protein 3 homolog Mus musculus (Mouse) PR
10 20 30 40 50 60
MAAGKFASLP RNMPVNHQFP LASSMDLLSS RSPLAEHRPD AYQDVSIHGT LPRKKKGPPP
70 80 90 100 110 120
IRSCDDFSHM GTLPHSKSPR QNSPVTQDGI QESPWQDRHG ETFTFRDPHL LDPTVEYVKF
130 140 150 160 170 180
SKERHIMDRT PEKLKKELEE ELLLSSEDLR SHAWYHGRIP RQVSENLVQR DGDFLVRDSL
190 200 210 220 230 240
SSPGNFVLTC QWKNLAQHFK INRTVLRLSE AYSRVQYQFE MESFDSIPGL VRCYVGNRRP
250 260 270 280 290 300
ISQQSGAIIF QPINRTVPLR CLEEHYGTSP GQAREGSLTK GRPDVAKRLS LTMGGVQARE
310 320 330 340 350 360
QNLPRGNLLR NKEKSGSQPA CLDHMQDRRA LSLKAHQSES YLPIGCKLPP QSSGVDTSPC
370 380 390 400 410 420
PNSPVFRTGS EPALSPAVVR RVSSDARAGE ALRGSDSQLC PKPPPKPCKV PFLKVPSSPS
430 440 450 460 470 480
AWLNSEANYC ELNPAFATGC GRGAKLPSCA QGSHTELLTA KQNEAPGPRN SGVNYLILDD
490 500 510 520 530 540
DDRERPWEPA AAQMEKGQWD KGEFVTPLLE TVSSFRPNEF ESKFLPPENK PLETAMLKRA
550 560 570 580 590 600
KELFTNNDPK VIAQHVLSMD CRVARILGVS EEMRRNMGVS SGLELITLPH GHQLRLDIIE
610 620 630 640 650 660
RHNTMAIGIA VDILGCTGTL EDRAATLSKI IQVAVELKDS MGDLYSFSAL MKALEMPQIT
670 680 690 700 710 720
RLEKTWTALR HQYTQTAILY EKQLKPFSKL LHEGRESTCV PPNNVSVPLL MPLVTLMERQ
730 740 750 760 770 780
AVTFEGTDMW EKNDQSCEIM LNHLATARFM AEAADSYRMN AERILAGFQP DEEMNEICKT
790 800 810 820
EFQMRLLWGS KGAQVNQTER YEKFNQILTA LSRKLEPPPV KQAEL