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 Q8N9R8

Entry ID Method Resolution Chain Position Source
AF-Q8N9R8-F1 Predicted AlphaFoldDB

315 variants for Q8N9R8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA375149176
rs1271361062
2 V>A No ClinGen
gnomAD
rs1308847223
CA375149178
2 V>I No ClinGen
gnomAD
rs1187580533
CA375149171
3 R>K No ClinGen
gnomAD
rs1228036967
CA375149148
5 A>T No ClinGen
gnomAD
CA375149128
rs1270485551
6 R>P No ClinGen
TOPMed
CA375149129
rs1270485551
6 R>Q No ClinGen
TOPMed
CA375149109
rs1306341625
8 P>S No ClinGen
gnomAD
CA199974944
rs888019024
9 Q>R No ClinGen
Ensembl
CA375149067
rs1367045700
12 R>W No ClinGen
TOPMed
gnomAD
rs1298796203
CA375149040
14 R>P No ClinGen
gnomAD
CA5238786
rs758268366
16 A>V No ClinGen
ExAC
CA5238771
rs771180910
19 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs771180910
CA5238772
19 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1159211400
CA375148912
20 T>I No ClinGen
gnomAD
CA5238770
rs747044631
22 T>P No ClinGen
ExAC
gnomAD
CA375148887
rs1405358715
23 V>M No ClinGen
gnomAD
CA375148863
rs1409119056
24 E>A No ClinGen
TOPMed
gnomAD
rs1411918741
CA375148868
24 E>K No ClinGen
TOPMed
rs1588262141
CA375148844
25 K>N No ClinGen
Ensembl
CA5238769
rs764533096
25 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1564139828
CA375148820
27 P>S No ClinGen
Ensembl
rs778701838
CA5238766
30 R>Q No ClinGen
ExAC
TOPMed
rs1260077346
CA375148746
33 R>G No ClinGen
gnomAD
rs754728252
CA5238765
33 R>T No ClinGen
ExAC
gnomAD
CA375147674
rs589292
37 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs589292
COSM3763635
CA5238718
VAR_023236
37 A>T large_intestine [Cosmic] No ClinGen
cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1376018490
CA375147671
37 A>V No ClinGen
gnomAD
rs1198202957
CA375147670
38 L>V No ClinGen
gnomAD
rs1438612429
CA375147663
39 K>E No ClinGen
TOPMed
gnomAD
CA375147653
rs1172954557
40 E>G No ClinGen
TOPMed
CA375147647
rs1252854388
41 I>V No ClinGen
gnomAD
CA375147629
rs368234163
43 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA5238717
rs368234163
43 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA199965063
rs778430484
45 G>R No ClinGen
Ensembl
rs1234959450
CA375147600
48 E>G No ClinGen
gnomAD
rs938947028
CA199965062
49 D>G No ClinGen
Ensembl
CA5238715
rs370824389
50 D>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780312589
CA5238713
58 T>I No ClinGen
ExAC
gnomAD
CA375147520
rs1588182930
60 T>A No ClinGen
Ensembl
CA375147498
rs1407578223
63 C>R No ClinGen
gnomAD
rs1299320910
CA375147488
64 Y>C No ClinGen
gnomAD
COSM77398
rs983093168
CA199965060
68 K>I ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA5238708
rs373100131
74 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767683920
CA374906962
81 Q>H No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 83 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 87 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200106227
CA199764930
92 G>* No ClinGen
Ensembl
rs1204214481
CA374906872
94 T>P No ClinGen
gnomAD
TCGA novel 102 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 103 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374906800
rs1377500229
103 K>N No ClinGen
gnomAD
rs757124100
CA5238672
110 Q>H No ClinGen
ExAC
gnomAD
rs1229068126
CA374906722
113 D>N No ClinGen
TOPMed
CA5238671
rs763999121
115 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA5238670
rs763999121
115 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1022821902
CA199764109
115 R>W No ClinGen
TOPMed
gnomAD
rs1239022893
CA374906701
116 Y>C No ClinGen
TOPMed
CA5238669
rs72765247
118 L>F No ClinGen
ExAC
gnomAD
rs767809565
CA5238667
119 K>* No ClinGen
ExAC
gnomAD
rs767809565
CA5238668
119 K>E No ClinGen
ExAC
gnomAD
rs759859828
CA5238666
120 R>S No ClinGen
ExAC
TCGA novel 122 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751914664
CA374906653
123 I>K No ClinGen
ExAC
gnomAD
CA5238665
rs751914664
123 I>T No ClinGen
ExAC
gnomAD
CA374906633
rs763293432
126 I>N No ClinGen
ExAC
gnomAD
rs763293432
CA5238663
126 I>T No ClinGen
ExAC
gnomAD
rs1564384631
CA374906617
129 K>E No ClinGen
Ensembl
rs1564384631
CA374906618
129 K>Q No ClinGen
Ensembl
CA374906590
rs1349448227
132 Q>H No ClinGen
gnomAD
rs902467823
CA199764048
133 L>P No ClinGen
Ensembl
TCGA novel 134 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 137 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374906524
rs1161510823
140 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1359615510
CA374906523
COSM203402
140 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1182517544
CA374906499
144 T>A No ClinGen
gnomAD
rs774919233
CA5238641
146 Y>C No ClinGen
ExAC
gnomAD
rs1338039787
CA374906475
147 L>P No ClinGen
TOPMed
CA5238640
rs771569827
149 E>G No ClinGen
ExAC
gnomAD
CA5238639
rs759108347
157 I>V No ClinGen
ExAC
gnomAD
TCGA novel 159 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5238637
rs770613037
159 Q>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 160 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 160 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774466360
CA199762999
161 S>L No ClinGen
Ensembl
rs777452314
CA5238635
163 Y>D No ClinGen
ExAC
gnomAD
rs1230495778
CA374906359
164 S>F No ClinGen
gnomAD
rs1348789132
CA374906352
165 Q>H No ClinGen
gnomAD
rs200434203
CA5238634
166 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1379621049
CA374906344
167 N>D No ClinGen
gnomAD
CA374906294
rs1320651590
172 P>T No ClinGen
gnomAD
CA374906288
rs1436715656
173 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA199758613
rs932023288
180 R>* No ClinGen
TOPMed
CA5238619
rs762527108
186 I>V No ClinGen
ExAC
gnomAD
TCGA novel 189 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769471221
CA5238617
193 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs748013964
CA5238616
194 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1249255735
CA374906127
196 D>A No ClinGen
TOPMed
gnomAD
CA374906130
rs1423760195
196 D>N No ClinGen
gnomAD
rs768752095
CA5238614
199 K>N No ClinGen
ExAC
gnomAD
rs747043209
CA5238613
200 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs758584382
CA5238611
202 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA5238591
rs201987641
207 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA374906014
rs1355532452
211 D>H No ClinGen
TOPMed
rs1442444036
CA374906010
211 D>V No ClinGen
TOPMed
CA5238590
rs771219131
213 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA374905991
rs1428382345
214 H>R No ClinGen
gnomAD
CA199757463
rs969196482
215 R>G No ClinGen
Ensembl
rs749607765
CA5238589
215 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA5238588
rs778125492
216 F>Y No ClinGen
ExAC
gnomAD
rs756546449
CA5238587
217 N>H No ClinGen
ExAC
gnomAD
rs1375964762
CA374905958
219 E>A No ClinGen
gnomAD
CA374905947
rs1386124693
221 Q>K No ClinGen
gnomAD
CA5238585
rs375187343
225 N>T No ClinGen
ESP
ExAC
gnomAD
COSM1459985
CA199757445
rs992069877
231 V>A large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA5238582
rs764755427
232 A>E No ClinGen
ExAC
gnomAD
rs764755427
CA374905797
232 A>V No ClinGen
ExAC
gnomAD
CA5238581
rs761577070
235 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs373639867
COSM1459984
CA5238564
237 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1292085794
CA374905684
238 D>H No ClinGen
gnomAD
CA374905661
rs1339156609
240 V>I No ClinGen
gnomAD
CA199757282
rs998378790
242 V>L No ClinGen
TOPMed
rs1176788129
CA374905623
243 L>I No ClinGen
TOPMed
CA5238561
rs201358665
244 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1157276714
CA374905587
245 D>G No ClinGen
gnomAD
rs1407016202
CA374905556
247 N>S No ClinGen
gnomAD
TCGA novel 250 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374905522
rs1412270769
250 V>I No ClinGen
TOPMed
rs1163553969
CA374905510
251 I>L No ClinGen
gnomAD
CA374905503
rs1473742024
251 I>T No ClinGen
gnomAD
rs1333350235
COSM1105134
CA374905477
253 S>L Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1276044967
CA374905404
259 T>A No ClinGen
TOPMed
rs1464990663
CA374905375
261 A>S No ClinGen
gnomAD
rs1464990663
CA374905378
261 A>T No ClinGen
gnomAD
rs759532689
CA5238557
262 P>S No ClinGen
ExAC
gnomAD
TCGA novel 266 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374905288
rs1206464363
267 G>D No ClinGen
gnomAD
CA374905295
rs1339639898
267 G>S No ClinGen
TOPMed
TCGA novel 269 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774230577
CA5238556
269 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA5238555
rs770995108
274 S>P No ClinGen
ExAC
gnomAD
CA374905214
rs200657393
277 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369558159
CA5238552
COSM1105132
278 A>T Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA374905207
rs1588155483
279 L>V No ClinGen
Ensembl
CA5238550
rs777075487
280 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1327541072
CA374905183
283 N>H No ClinGen
gnomAD
rs1350623294
CA374905172
284 C>F No ClinGen
gnomAD
rs747552796
CA5238548
286 N>K No ClinGen
ExAC
gnomAD
rs1490631593
CA374905156
286 N>S No ClinGen
TOPMed
CA5238518
rs755657455
288 V>G No ClinGen
ExAC
rs1192589236
CA374904010
288 V>I No ClinGen
gnomAD
rs1032716855
CA199746194
291 S>G No ClinGen
gnomAD
CA5238517
rs747834302
293 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1250195431
CA374903813
303 A>V No ClinGen
gnomAD
COSM1132595
rs766263609
CA5238513
307 E>Q Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5238511
rs750443849
309 M>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5238512
rs758352624
309 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA199746172
rs201670400
310 N>S No ClinGen
1000Genomes
rs765303079
CA5238510
312 A>V No ClinGen
ExAC
gnomAD
CA5238509
rs200286023
313 S>F No ClinGen
1000Genomes
ExAC
gnomAD
rs1162012527
CA374903737
315 M>K No ClinGen
Ensembl
rs764269336
CA5238507
316 N>K No ClinGen
ExAC
gnomAD
CA5238508
rs776895636
316 N>S No ClinGen
ExAC
gnomAD
rs761064940
CA5238506
317 K>N No ClinGen
ExAC
gnomAD
rs1177518662
CA374903715
318 P>Q No ClinGen
gnomAD
CA374903717
rs1359267491
318 P>T No ClinGen
gnomAD
CA5238504
rs772652764
320 M>V No ClinGen
ExAC
gnomAD
CA374903694
rs1195879424
321 Q>R No ClinGen
gnomAD
CA374903652
rs1317122603
325 D>E No ClinGen
gnomAD
CA199745980
rs534187519
325 D>G No ClinGen
1000Genomes
CA374903650
rs1243658739
326 K>E No ClinGen
gnomAD
rs1297646190
CA374903638
327 P>R No ClinGen
gnomAD
rs1381439066
CA374903641
327 P>S No ClinGen
gnomAD
rs371292629
CA199745976
328 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA199745971
rs958910406
328 T>N No ClinGen
TOPMed
gnomAD
rs371292629
CA5238481
328 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1287911753
CA374903626
330 R>* No ClinGen
gnomAD
CA5238480
rs768297116
331 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs746668189
CA5238479
332 N>K No ClinGen
ExAC
gnomAD
rs771837312
CA5238477
333 P>L No ClinGen
ExAC
gnomAD
CA5238478
rs376710995
333 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1187982474
CA374903587
336 Y>H No ClinGen
TOPMed
CA374903536
rs1343876072
343 F>C No ClinGen
gnomAD
TCGA novel 344 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374903501
rs1210624213
348 T>I No ClinGen
gnomAD
CA5238472
rs777724017
351 A>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 351 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA5238470
rs752954982
352 A>V No ClinGen
ExAC
gnomAD
rs922025260
CA199745116
358 P>A No ClinGen
Ensembl
COSM1105131
CA374903186
rs1203143896
360 N>S liver endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
rs774158530
CA199745105
365 I>F No ClinGen
Ensembl
rs867788647
CA199745058
370 T>A No ClinGen
TOPMed
gnomAD
CA5238447
rs766656956
370 T>N No ClinGen
ExAC
rs867788647
CA374903042
370 T>S No ClinGen
TOPMed
gnomAD
CA199745015
rs912133819
373 F>S No ClinGen
Ensembl
rs750877373
CA5238445
374 P>R No ClinGen
ExAC
gnomAD
CA374902965
rs1351448507
375 T>A No ClinGen
gnomAD
rs1369864954
CA374902947
376 G>R No ClinGen
TOPMed
CA199744999
rs923431724
376 G>V No ClinGen
TOPMed
gnomAD
COSM3432856
rs760144612
CA5238443
377 R>C Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs775009298
CA5238442
377 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA5238441
rs767102086
379 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA374902902
rs1427535546
380 S>G No ClinGen
gnomAD
CA374901490
rs1203819707
384 Y>F No ClinGen
gnomAD
CA5238418
rs759147578
389 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA199743821
rs868625752
391 T>N No ClinGen
Ensembl
CA374901344
rs1248779333
392 N>D No ClinGen
gnomAD
rs766095075
CA5238416
395 R>W No ClinGen
ExAC
gnomAD
rs773164593
CA5238414
396 D>E No ClinGen
ExAC
gnomAD
CA374901177
rs1316489013
397 I>V No ClinGen
gnomAD
CA199743803
rs375628930
402 A>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375628930
CA5238413
402 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 404 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780636989
CA5238410
404 H>Q No ClinGen
ExAC
gnomAD
rs776776226
CA5238411
404 H>Y No ClinGen
ExAC
gnomAD
rs747158707
CA374900856
406 R>L No ClinGen
ExAC
gnomAD
CA5238409
rs747158707
406 R>Q No ClinGen
ExAC
gnomAD
CA374900840
rs1182383146
407 N>S No ClinGen
gnomAD
CA374900821
rs1342875555
408 Q>P No ClinGen
TOPMed
CA374900777
rs1475450869
COSM1105129
410 H>P Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs780104670
CA5238408
411 K>E No ClinGen
ExAC
gnomAD
TCGA novel 411 K>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778213347
CA5238385
419 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA374899579
rs1343382491
422 Y>C No ClinGen
gnomAD
rs1263235175
CA374899589
422 Y>N No ClinGen
TOPMed
CA374899561
rs1463436306
423 P>T No ClinGen
TOPMed
rs1588139304
CA374899535
425 T>P No ClinGen
Ensembl
CA374899529
rs1302525944
426 R>G No ClinGen
gnomAD
CA199740234
rs1039187435
431 I>V No ClinGen
Ensembl
rs1408848612
CA374899407
432 I>V No ClinGen
gnomAD
COSM263515
rs757912013
CA5238381
435 S>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA5238378
rs757083632
439 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1231268835
CA374899243
440 A>P No ClinGen
TOPMed
gnomAD
CA374899241
rs1231268835
440 A>S No ClinGen
TOPMed
gnomAD
rs1203988885
CA374899234
440 A>V No ClinGen
gnomAD
CA374893695
rs1465303498
445 T>I No ClinGen
TOPMed
CA374893694
rs1408545551
446 N>D No ClinGen
TOPMed
rs1318469422
CA374893575
451 P>L No ClinGen
gnomAD
CA199729039
rs1034656402
453 V>A No ClinGen
TOPMed
CA5238357
rs753626978
459 T>A No ClinGen
ExAC
gnomAD
rs763948902
CA374893453
459 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs763948902
CA5238356
459 T>R No ClinGen
ExAC
TOPMed
gnomAD
rs755923769
CA5238355
464 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA199729025
rs755923769
464 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA374892474
rs1233170829
467 D>E No ClinGen
gnomAD
CA374892377
rs1336927254
469 S>C No ClinGen
gnomAD
CA5238326
rs766445170
471 R>* No ClinGen
ExAC
gnomAD
rs369515394
CA5238325
471 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA199726900
rs927131529
474 L>I No ClinGen
TOPMed
rs765417164
CA5238323
477 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs765417164
CA199726889
477 L>V No ClinGen
ExAC
TOPMed
gnomAD
COSM1330737
CA5238322
rs762197125
481 N>S ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1173915798
CA374891897
485 A>V No ClinGen
gnomAD
rs1416812745
CA374891609
494 S>T No ClinGen
gnomAD
CA374891577
rs1216294741
495 M>I No ClinGen
gnomAD
rs761266346
CA5238319
496 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA5238318
rs371655620
496 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 498 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA199726836
rs896091784
503 C>S No ClinGen
Ensembl
rs747920037
CA5238313
505 E>A No ClinGen
ExAC
gnomAD
rs1281831362
CA374891217
506 Y>C No ClinGen
gnomAD
CA5238312
rs780971540
507 L>F No ClinGen
ExAC
gnomAD
COSM1314442
CA199726808
rs1037274982
508 R>Q Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1277388896
CA374891134
509 K>N No ClinGen
gnomAD
rs1454797965
CA374891100
510 I>M No ClinGen
gnomAD
CA5238311
rs754836411
511 N>D No ClinGen
ExAC
gnomAD
CA5238310
rs751483718
511 N>S No ClinGen
ExAC
gnomAD
rs940376510
CA199726801
512 R>C No ClinGen
gnomAD
rs200076178
CA5238309
512 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA199726764
rs778179352
519 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA5238307
rs778179352
519 T>S No ClinGen
ExAC
TOPMed
gnomAD
rs1407676780
CA374890909
520 H>N No ClinGen
TOPMed
rs921772007
CA199726763
522 R>C No ClinGen
gnomAD
CA5238306
rs202109345
522 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs974587395
CA199726759
524 I>T No ClinGen
gnomAD
rs1192029108
CA374902221
527 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA199776425
rs1016280095
531 F>L No ClinGen
Ensembl
CA374902033
rs1225344566
534 D>G No ClinGen
gnomAD
rs530897438
CA5238287
538 R>C No ClinGen
1000Genomes
ExAC
gnomAD
CA5238286
rs754093354
539 L>V No ClinGen
ExAC
gnomAD
CA374901886
rs1588124319
540 L>F No ClinGen
Ensembl
rs756508043
CA5238284
545 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs886114774
CA199776388
548 S>* No ClinGen
Ensembl
CA5238282
rs768015078
549 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA374901584
rs1255629702
551 M>I No ClinGen
TOPMed
rs774993223
CA5238280
552 R>K No ClinGen
ExAC
gnomAD
rs1322242274
CA374901494
555 K>E No ClinGen
gnomAD
rs1410031763
CA374901447
557 F>I No ClinGen
gnomAD
COSM40986
rs761432942
CA5238278
558 R>Q large_intestine central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs764643339
CA5238279
558 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755431697
CA5238260
564 P>S No ClinGen
ExAC
gnomAD
rs1315136079
CA374896742
565 E>D No ClinGen
TOPMed
CA374896566
rs1305443035
574 E>* No ClinGen
Ensembl
CA5238255
rs200979758
580 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1265219373
CA374896426
580 H>R No ClinGen
gnomAD
CA374896404
rs1374853222
581 L>R No ClinGen
Ensembl
CA374896391
rs1212055948
582 Q>R No ClinGen
gnomAD
CA5238254
rs760324613
583 K>N No ClinGen
ExAC
gnomAD
CA5238253
rs775189186
584 H>Y No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 586 L>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 590 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA374896117
rs1248749612
593 D>G No ClinGen
TOPMed
rs1374879277
CA374896092
594 V>I No ClinGen
gnomAD
rs745717368
CA5238251
595 R>* No ClinGen
ExAC
gnomAD
CA5238250
rs541516222
595 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA5238248
rs370360450
597 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 598 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA199763185
rs971549758
599 F>V No ClinGen
gnomAD
rs1244969741
CA374895949
601 N>D No ClinGen
TOPMed
CA5238245
rs770069119
603 I>T No ClinGen
ExAC
TOPMed
gnomAD
rs778009281
CA5238246
603 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA374895882
rs1178171123
604 D>H No ClinGen
TOPMed
gnomAD
TCGA novel 604 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA199763174
rs754355465
605 D>A No ClinGen
Ensembl
rs1445311517
CA374895824
605 D>E No ClinGen
TOPMed
gnomAD
CA199763171
rs958990744
606 Y>C No ClinGen
TOPMed
gnomAD

No associated diseases with Q8N9R8

No regional properties for Q8N9R8

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8N9R8

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass membrane protein
  • Nucleus
  • Cytoplasm
  • Nuclear localization is required for inhibition of MRTFA
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nuclear membrane Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

1 GO annotations of molecular function

Name Definition
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

2 GO annotations of biological process

Name Definition
negative regulation of cell migration Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of Rho protein signal transduction Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8C8N2 Scai Protein SCAI Mus musculus (Mouse) PR
10 20 30 40 50 60
MVRGARQPQQ PRSRLAPRLT GTVEKPPRKR RSRTEFALKE IMSSGGAEDD IPQGERKTVT
70 80 90 100 110 120
DFCYLLDKSK QLFNGLRDLP QYGQKQWQSY FGRTFDVYTK LWKFQQQHRQ VLDNRYGLKR
130 140 150 160 170 180
WQIGEIASKI GQLYYHYYLR TSETSYLNEA FSFYSAIRQR SYYSQVNKED RPELVVKKLR
190 200 210 220 230 240
YYARFIVVCL LLNKMDVVKD LVKELSDEIE DYTHRFNTED QVEWNLVLQE VAAFIEADPV
250 260 270 280 290 300
MVLNDDNTIV ITSNRLAETG APLLEQGMIV GQLSLADALI IGNCNNQVKF SELTVDMFRM
310 320 330 340 350 360
LQALEREPMN LASQMNKPGM QESADKPTRR ENPHKYLLYK PTFSQLYTFL AASFKELPAN
370 380 390 400 410 420
SVLLIYLSAT GVFPTGRSDS EGPYDFGGVL TNSNRDIING DAIHKRNQSH KEMHCLHPGD
430 440 450 460 470 480
LYPFTRKPLF IIVDSSNSVA YKNFTNLFGQ PLVCLLSPTA YPKALQDQSQ RGSLFTLFLN
490 500 510 520 530 540
NPLMAFLFVS GLSSMRRGLW EKCQEYLRKI NRDIAQLLTH SRSIDQAFLQ FFGDEFLRLL
550 560 570 580 590 600
LTRFIFCSAT MRMHKIFRET RNYPESYPQL PRDETVENPH LQKHILELAS ILDVRNVFFE
NTIDDY