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

1 structures for Q8WVF1

Entry ID Method Resolution Chain Position Source
AF-Q8WVF1-F1 Predicted AlphaFoldDB

287 variants for Q8WVF1

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1429742436
CA339407107
4 R>L No ClinGen
gnomAD
CA339407081
rs1292889460
9 L>P No ClinGen
gnomAD
rs1488362836
CA339407083
9 L>V No ClinGen
TOPMed
gnomAD
CA339407049
rs1340386682
13 L>F No ClinGen
TOPMed
gnomAD
CA339407045
rs1274156684
14 G>D No ClinGen
gnomAD
rs978058314
CA20729009
15 G>E No ClinGen
TOPMed
rs766658594
CA768513
16 E>* No ClinGen
ExAC
gnomAD
rs1385304768
CA339407025
17 M>T No ClinGen
Ensembl
CA768512
rs758591420
18 L>F No ClinGen
ExAC
gnomAD
rs201190612
CA20728999
22 D>H No ClinGen
Ensembl
CA768510
rs763901874
23 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA768511
rs763901874
23 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA339406873
rs1407757557
25 L>P No ClinGen
gnomAD
rs1168813840
CA339406866
27 A>T No ClinGen
gnomAD
rs11547025
CA768508
31 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_027741
rs11547025
CA768507
31 P>R No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1174592927
CA339406830
32 G>E No ClinGen
gnomAD
CA768504
rs151311655
33 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748897051
CA768503
34 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA339406818
rs1202099444
34 K>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1214340404
CA339406805
36 R>C No ClinGen
TOPMed
rs1196567549
CA339406793
38 D>N No ClinGen
gnomAD
CA339406552
rs1213735566
40 W>R No ClinGen
gnomAD
TCGA novel 41 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339406504
rs1416567213
44 D>G No ClinGen
TOPMed
rs757388284
CA768475
44 D>H No ClinGen
ExAC
gnomAD
rs572607037
CA768474
46 K>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA768473
rs781084547
47 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs754993816
CA768472
47 R>Q No ClinGen
ExAC
gnomAD
rs1365153015
CA339406465
48 V>I No ClinGen
gnomAD
TCGA novel 49 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1367744818
CA339405772
50 N>H No ClinGen
gnomAD
rs1166896118
CA339405750
51 D>G No ClinGen
gnomAD
rs746783723
CA768454
52 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA768453
rs553056470
54 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1169595097
CA339405689
56 M>T No ClinGen
gnomAD
rs969767873
CA20723841
57 F>L No ClinGen
Ensembl
rs563074314
CA768452
58 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1403825136
CA339405644
59 R>T No ClinGen
TOPMed
rs1490772004
CA339405601
62 M>T No ClinGen
gnomAD
rs771318760
CA768450
62 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA339405590
rs1249188671
63 E>K No ClinGen
gnomAD
rs753422853
CA768448
68 P>R No ClinGen
ExAC
gnomAD
CA339405497
rs1274427405
69 Q>* No ClinGen
gnomAD
rs373258386
CA768446
70 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs373258386
CA339405484
70 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768117356
CA768444
72 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs768117356
CA768445
72 Y>S No ClinGen
ExAC
TOPMed
gnomAD
CA768443
rs186694883
73 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1184367836
CA339405423
74 K>N No ClinGen
gnomAD
CA768442
rs182337804
74 K>R No ClinGen
1000Genomes
ExAC
gnomAD
CA339405419
rs1444303851
75 K>E No ClinGen
gnomAD
rs1254146105
CA339405416
75 K>T No ClinGen
gnomAD
CA768441
rs369020817
76 A>T No ClinGen
ESP
ExAC
TOPMed
CA768438
rs770134126
80 V>I No ClinGen
ExAC
gnomAD
rs1412800249
CA339405354
81 Y>C No ClinGen
TOPMed
gnomAD
rs1412800249
CA339405353
81 Y>F No ClinGen
TOPMed
gnomAD
CA768436
rs201381707
82 E>G No ClinGen
ExAC
TOPMed
gnomAD
rs145212649
CA768435
83 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA768433
rs144226900
83 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA768434
rs144226900
83 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1283221807
CA339405307
85 A>G No ClinGen
TOPMed
CA20723779
rs756663980
85 A>P No ClinGen
ExAC
gnomAD
rs756663980
CA768432
85 A>T No ClinGen
ExAC
gnomAD
CA768431
rs368502494
86 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1246237800
CA339405296
86 H>Y No ClinGen
gnomAD
CA20723764
rs760388357
88 S>Y No ClinGen
Ensembl
rs755740191
CA768429
93 N>K No ClinGen
ExAC
gnomAD
rs973515410
CA20723735
94 Q>E No ClinGen
TOPMed
CA339405210
rs1204796810
94 Q>P No ClinGen
gnomAD
rs1326122701
CA339405205
95 A>T No ClinGen
gnomAD
rs1403739444
CA339405186
97 M>R No ClinGen
TOPMed
rs1470845360
CA339405190
97 M>V No ClinGen
TOPMed
rs753081230
CA768428
98 D>G No ClinGen
ExAC
gnomAD
CA339405173
rs1223577856
99 K>* No ClinGen
gnomAD
rs767733052
CA768427
99 K>M No ClinGen
ExAC
gnomAD
rs767733052
CA339405172
99 K>T No ClinGen
ExAC
gnomAD
rs771698761
CA768416
101 Y>* No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 102 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA768415
rs202016130
105 T>N No ClinGen
1000Genomes
ExAC
gnomAD
rs770900052
CA768414
106 M>L No ClinGen
ExAC
gnomAD
rs748844782
CA768412
106 M>T No ClinGen
ExAC
gnomAD
rs770900052
CA768413
106 M>V No ClinGen
ExAC
gnomAD
rs777215154
CA768411
108 F>L No ClinGen
ExAC
gnomAD
rs139145594
CA768410
110 Y>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs755279719
CA768409
111 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs781626400
CA768408
112 V>I No ClinGen
ExAC
TOPMed
rs751944917
CA768406
115 C>Y No ClinGen
ExAC
gnomAD
CA768405
rs766831925
116 P>A No ClinGen
ExAC
gnomAD
CA339420980
rs1164982562
117 R>* No ClinGen
gnomAD
rs142000188
CA768403
117 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142000188
CA768404
117 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146099595
CA768402
119 K>R No ClinGen
ESP
ExAC
gnomAD
CA339420894
rs1244136796
122 L>V No ClinGen
gnomAD
rs1038126675
CA20745179
123 L>R No ClinGen
TOPMed
rs1359075675
CA339420861
125 T>A No ClinGen
gnomAD
rs762135024
CA768401
127 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs759316663
CA768398
132 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA339420729
rs1312598755
133 K>E No ClinGen
TOPMed
CA339420696
rs1366897149
135 F>C No ClinGen
gnomAD
CA768396
rs770874928
135 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA768395
rs749183092
137 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA768394
rs777268483
137 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs769235150
CA768393
138 D>G No ClinGen
ExAC
gnomAD
CA339420662
rs1444020145
138 D>N No ClinGen
TOPMed
VAR_056958
rs34409118
CA768390
141 T>A No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766674301
CA768388
142 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs754625448
CA768389
142 I>V No ClinGen
ExAC
gnomAD
TCGA novel 143 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780420977
CA768387
143 L>P No ClinGen
ExAC
gnomAD
CA339420546
rs1269909149
144 Q>* No ClinGen
gnomAD
rs1051732424
CA20745055
144 Q>H No ClinGen
TOPMed
gnomAD
rs1035063279
CA20745066
144 Q>L No ClinGen
Ensembl
rs759008005
CA768386
145 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs762043052
CA339420445
148 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA339420449
rs1457418004
148 E>G No ClinGen
TOPMed
CA768384
rs765420878
148 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA768382
rs753948955
149 T>I No ClinGen
ExAC
gnomAD
CA768380
rs568837298
150 L>V No ClinGen
1000Genomes
ExAC
gnomAD
rs141201826
CA768378
151 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA768379
rs774044342
151 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1386822449
CA339420303
154 T>I No ClinGen
Ensembl
TCGA novel 155 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA768358
rs765205202
156 I>M No ClinGen
ExAC
gnomAD
rs1309972412
CA339420118
156 I>T No ClinGen
TOPMed
rs772957430
CA768359
156 I>V No ClinGen
ExAC
gnomAD
CA20744588
rs777198609
157 Y>C No ClinGen
TOPMed
CA339420105
rs1242367113
157 Y>D No ClinGen
TOPMed
rs539778629
CA768357
158 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs1570521592
CA339420062
159 G>D No ClinGen
Ensembl
TCGA novel 160 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA339420009
rs1316920110
162 A>T No ClinGen
gnomAD
rs150943653
CA768354
164 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339419948
rs1461767006
165 F>C No ClinGen
gnomAD
CA768352
rs373786872
169 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs569111580
CA768353
COSM1342319
COSM1342320
169 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
CA20744527
rs773468810
170 Q>* No ClinGen
Ensembl
rs746276623
CA768351
171 T>I No ClinGen
ExAC
gnomAD
CA768348
rs550353114
174 I>F No ClinGen
1000Genomes
TOPMed
gnomAD
CA768349
rs550353114
174 I>V No ClinGen
1000Genomes
TOPMed
gnomAD
rs779402031
CA339419686
180 H>Q No ClinGen
ExAC
gnomAD
CA339419680
rs1420935726
181 I>V No ClinGen
TOPMed
rs757734143
CA768346
182 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs749734102
CA339419660
182 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs749734102
CA768345
182 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA339417533
rs1384568854
183 V>G No ClinGen
gnomAD
rs1243046445
CA339417546
COSM224157
183 V>I skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA339417527
rs1204731584
184 S>F No ClinGen
gnomAD
rs1314267212
CA339417518
185 M>V No ClinGen
gnomAD
rs1223370177
CA339417448
190 K>E No ClinGen
gnomAD
rs1351661519
CA339417414
192 Q>E No ClinGen
gnomAD
CA339417407
rs1311646423
192 Q>R No ClinGen
gnomAD
rs372876354
CA768281
194 N>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA768280
rs777180611
194 N>S No ClinGen
ExAC
gnomAD
rs138506112
CA339417341
196 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 196 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA768278
rs138506112
196 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA768277
rs149060854
197 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA339417323
rs1381747301
197 R>H No ClinGen
TOPMed
gnomAD
CA20739081
rs1005351722
201 P>L No ClinGen
TOPMed
rs901942787
CA20739055
202 V>A No ClinGen
Ensembl
TCGA novel 202 V>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756028464
CA768273
204 G>R No ClinGen
ExAC
gnomAD
rs1375707094
CA339417198
205 P>T No ClinGen
gnomAD
CA768271
rs781313667
207 P>S No ClinGen
ExAC
gnomAD
TCGA novel 210 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215519694
CA339417092
210 T>S No ClinGen
TOPMed
gnomAD
rs1354985286
CA339417049
212 V>A No ClinGen
TOPMed
CA768270
rs754942961
213 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA339417024
rs1288403761
215 L>H No ClinGen
gnomAD
CA768269
rs751102022
216 I>M No ClinGen
ExAC
gnomAD
rs1007524321
CA20739011
216 I>T No ClinGen
Ensembl
rs1223823341
CA339416837
218 M>T No ClinGen
gnomAD
rs1305745796
CA339416686
COSM1218950
223 G>C large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA339416683
rs1294707344
223 G>D No ClinGen
gnomAD
CA768252
rs754996087
225 E>A No ClinGen
ExAC
gnomAD
CA768253
rs781084723
225 E>Q No ClinGen
ExAC
rs762440629
CA20738669
227 K>* No ClinGen
Ensembl
TCGA novel 227 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA768251
rs371086943
227 K>R No ClinGen
ESP
ExAC
gnomAD
rs1416840
CA768250
229 I>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1404009959
CA339416519
230 E>G No ClinGen
gnomAD
CA768249
rs757905867
233 H>R No ClinGen
ExAC
gnomAD
CA339416424
rs1364948246
234 G>A No ClinGen
gnomAD
rs910630258
CA20738655
234 G>S No ClinGen
Ensembl
CA768248
rs749945990
235 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA339416397
rs1240871404
236 N>S No ClinGen
TOPMed
TCGA novel 240 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs986210626
CA20738633
240 A>T No ClinGen
Ensembl
VAR_027742
CA20738661
rs2359016
242 K>E No ClinGen
UniProt
Ensembl
dbSNP
CA768247
rs764909849
243 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs756885060
CA768246
244 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA339416100
rs1197698787
249 Y>F No ClinGen
gnomAD
rs754226924
CA768245
249 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 249 Y>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761252936
CA768243
252 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA768244
rs761252936
252 R>G No ClinGen
ExAC
TOPMed
gnomAD
COSM77373
CA768242
rs753198894
252 R>Q ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA339416058
rs1368609358
253 V>D No ClinGen
TOPMed
CA339416061
rs1479675148
253 V>I No ClinGen
gnomAD
rs1250692472
CA339416029
256 L>P No ClinGen
gnomAD
rs1305290068
CA339415987
259 N>I No ClinGen
TOPMed
CA20738572
rs373081087
260 M>K No ClinGen
ESP
rs17442970
CA768226
263 V>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs17442970
CA768227
263 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1287322283
CA339415813
265 Q>* No ClinGen
TOPMed
rs1236361726
CA339415730
270 H>P No ClinGen
gnomAD
CA768222
rs767954254
274 S>T No ClinGen
ExAC
gnomAD
rs751718991
CA768220
276 K>Q No ClinGen
ExAC
gnomAD
CA768218
rs763280071
278 L>S No ClinGen
ExAC
gnomAD
CA339415549
rs1304944200
279 A>G No ClinGen
gnomAD
rs1049019255
CA20738312
280 S>L No ClinGen
TOPMed
CA339415502
rs1570501063
281 W>R No ClinGen
Ensembl
rs547852096
CA20738309
282 T>A No ClinGen
1000Genomes
gnomAD
rs547852096
CA339415476
282 T>P No ClinGen
1000Genomes
gnomAD
rs1253602336
CA339414388
284 E>D No ClinGen
TOPMed
TCGA novel 284 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA768203
rs202237610
286 I>S No ClinGen
ExAC
TOPMed
gnomAD
CA339414349
rs1570498349
288 P>S No ClinGen
Ensembl
CA339414315
rs1162993844
291 L>H No ClinGen
gnomAD
CA768201
rs758620253
293 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA20737547
rs925041588
294 E>* No ClinGen
gnomAD
rs750501736
CA768200
296 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs1263460054
CA339414227
299 L>S No ClinGen
gnomAD
rs765427269
CA768199
303 M>T No ClinGen
ExAC
gnomAD
CA339414175
rs1341812616
304 G>E No ClinGen
TOPMed
gnomAD
CA339414149
CA339414152
rs1290481254
306 M>I No ClinGen
TOPMed
gnomAD
CA768198
rs762046311
307 E>Q No ClinGen
ExAC
gnomAD
rs140749623
CA768197
307 E>V No ClinGen
ESP
ExAC
gnomAD
rs767280774
CA768196
308 I>V No ClinGen
ExAC
gnomAD
CA768195
rs759486383
311 P>L No ClinGen
ExAC
gnomAD
CA20737510
rs1036098759
313 G>S No ClinGen
TOPMed
CA768193
rs2275477
317 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA768192
rs748843097
318 F>L No ClinGen
ExAC
gnomAD
rs748893476
CA768191
319 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1406005863
CA339414026
319 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA339414017
rs1166015570
320 L>S No ClinGen
gnomAD
CA339413959
rs199901207
324 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199901207
CA768189
324 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339413947
rs1458987459
325 T>I No ClinGen
TOPMed
CA768186
rs148013964
326 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA768185
rs186698173
330 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA768163
rs567565665
333 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs756278342
CA768160
339 E>* No ClinGen
ExAC
TCGA novel 340 L>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs374472163
CA768158
342 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA768157
rs762890061
344 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA339413455
rs1377580266
347 I>M No ClinGen
gnomAD
rs1304447407
CA339413463
347 I>V No ClinGen
TOPMed
rs1570495217
CA339413423
350 T>P No ClinGen
Ensembl
CA768128
rs771851049
355 R>Q No ClinGen
ExAC
gnomAD
CA768129
rs148820896
355 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA339413214
rs1229854981
357 E>D No ClinGen
gnomAD
rs372240068
CA768127
357 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA768126
rs774526032
358 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA768125
rs771495318
358 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA768124
rs749688697
359 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1341955121
CA339413192
360 A>S No ClinGen
TOPMed
gnomAD
rs1341955121
CA339413193
360 A>T No ClinGen
TOPMed
gnomAD
CA20736141
rs552863417
361 R>* No ClinGen
TOPMed
gnomAD
CA20736147
rs552863417
361 R>G No ClinGen
TOPMed
gnomAD
rs769918188
CA768122
361 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs748219697
CA768121
362 I>V No ClinGen
ExAC
gnomAD
CA768120
rs781432899
365 E>K No ClinGen
ExAC
gnomAD
rs755132364
CA768119
366 F>S No ClinGen
ExAC
gnomAD
CA339413085
rs778532589
368 I>M No ClinGen
ExAC
gnomAD
CA768116
rs757225346
369 T>M No ClinGen
ExAC
gnomAD
rs1286980837
CA339413070
370 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1452991218
CA339413053
371 Q>K No ClinGen
TOPMed
rs755756324
CA768113
373 R>K No ClinGen
ExAC
rs1247222519
CA339413021
373 R>S No ClinGen
TOPMed
gnomAD
CA768111
rs151147935
375 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA768109
rs151147935
375 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA768110
rs151147935
375 S>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA339412991
rs1394685771
376 T>N No ClinGen
TOPMed
CA20736035
rs17851612
377 S>G No ClinGen
Ensembl
CA768107
rs556610510
377 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs773773589
CA768106
379 G>E No ClinGen
ExAC
TOPMed
gnomAD
rs776644354
CA768103
381 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA339412933
rs776644354
381 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA768102
rs747136536
384 A>S No ClinGen
ExAC
gnomAD
CA768101
rs747136536
384 A>T No ClinGen
ExAC
gnomAD
CA768100
rs374436783
385 M>V No ClinGen
ESP
ExAC
gnomAD
CA768099
rs757060476
387 D>N No ClinGen
ExAC
gnomAD
rs371467203
CA768098
388 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763283490
CA768095
390 L>A No ClinGen
ExAC
gnomAD
CA768096
rs759325013
390 L>Q No ClinGen
ExAC
TOPMed
gnomAD

No associated diseases with Q8WVF1

No regional properties for Q8WVF1

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8WVF1

Functions

Description
EC Number
Subcellular Localization
  • Basal cell membrane
  • Syncytiotrophoblast in placenta
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
basal plasma membrane The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
transmembrane transporter activity Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.

1 GO annotations of biological process

Name Definition
xenobiotic detoxification by transmembrane export across the plasma membrane A process that reduces or removes the toxicity of a xenobiotic by exporting it outside the cell.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q29S00 OSCP1 Protein OSCP1 Bos taurus (Bovine) PR
Q8BHW2 Oscp1 Protein OSCP1 Mus musculus (Mouse) PR
Q4QQS3 Oscp1 Protein OSCP1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSVRTLPLLF LNLGGEMLYI LDQRLRAQNI PGDKARKDEW TEVDRKRVLN DIISTMFNRK
70 80 90 100 110 120
FMEELFKPQE LYSKKALRTV YERLAHASIM KLNQASMDKL YDLMTMAFKY QVLLCPRPKD
130 140 150 160 170 180
VLLVTFNHLD TIKGFIRDSP TILQQVDETL RQLTEIYGGL SAGEFQLIRQ TLLIFFQDLH
190 200 210 220 230 240
IRVSMFLKDK VQNNNGRFVL PVSGPVPWGT EVPGLIRMFN NKGEEVKRIE FKHGGNYVPA
250 260 270 280 290 300
PKEGSFELYG DRVLKLGTNM YSVNQPVETH VSGSSKNLAS WTQESIAPNP LAKEELNFLA
310 320 330 340 350 360
RLMGGMEIKK PSGPEPGFRL NLFTTDEEEE QAALTRPEEL SYEVINIQAT QDQQRSEELA
370 380
RIMGEFEITE QPRLSTSKGD DLLAMMDEL