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

3 structures for Q6NSI4

Entry ID Method Resolution Chain Position Source
8U5Y EM 301 A A/B/C 1-855 PDB
8U61 EM 400 A A/B/C/D 1-855 PDB
AF-Q6NSI4-F1 Predicted AlphaFoldDB

378 variants for Q6NSI4

Variant ID(s) Position Change Description Diseaes Association Provenance
CA10482095
rs199854559
2 S>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10482096
rs771275007
3 G>A No ClinGen
ExAC
gnomAD
CA10482097
rs376438253
5 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1336202093
CA413877610
6 G>E No ClinGen
gnomAD
CA413877628
rs1464522656
9 E>A No ClinGen
TOPMed
gnomAD
rs774119956
CA10482100
12 P>S No ClinGen
ExAC
gnomAD
CA413877653
rs1440891234
13 S>L No ClinGen
gnomAD
rs1603030980
CA413877657
14 H>Y No ClinGen
Ensembl
rs1569421620
CA413877687
18 D>E No ClinGen
Ensembl
CA413877703
rs1239099445
20 P>R No ClinGen
TOPMed
rs767410173
CA10482102
21 N>Y No ClinGen
ExAC
CA10482103
rs749942009
24 R>K No ClinGen
ExAC
gnomAD
rs1167035780
CA413877740
26 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs765991272
CA10482106
30 P>A No ClinGen
ExAC
gnomAD
COSM1464656
CA10482107
rs370255784
30 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA10482105
rs765991272
30 P>S No ClinGen
ExAC
gnomAD
TCGA novel 31 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413877772
rs1301170224
32 G>R No ClinGen
TOPMed
rs1393926876
CA413877794
35 R>Q No ClinGen
gnomAD
rs909164266
CA333408955
41 G>E No ClinGen
TOPMed
rs1303992225
CA413877835
42 P>A No ClinGen
TOPMed
rs758933008
CA10482110
44 S>P No ClinGen
ExAC
gnomAD
CA10482112
rs747057484
47 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs771186847
CA10482113
49 V>A No ClinGen
ExAC
TCGA novel 50 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201142543
CA10482115
51 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs781519814
COSM122435
CA10482114
51 E>Q upper_aerodigestive_tract [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA10482116
rs768275039
52 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs927179757
CA333408965
53 I>T No ClinGen
Ensembl
rs774178715
CA10482117
55 D>V No ClinGen
ExAC
gnomAD
CA413877936
rs1258425090
57 P>S No ClinGen
TOPMed
gnomAD
CA333408969
rs969190349
58 R>C No ClinGen
TOPMed
gnomAD
CA413877940
rs969190349
58 R>S No ClinGen
TOPMed
gnomAD
CA10482119
rs772012236
60 C>S No ClinGen
ExAC
gnomAD
rs773071044
CA10482120
61 V>I No ClinGen
ExAC
gnomAD
CA413877969
rs1434692724
62 T>I No ClinGen
TOPMed
rs1159282722
CA413877967
62 T>S No ClinGen
gnomAD
rs760128227
CA10482121
63 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1487127109
CA413877979
64 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 64 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10482122
rs765905243
74 V>I No ClinGen
ExAC
TOPMed
rs1603031164
CA413878046
75 Q>R No ClinGen
Ensembl
CA413878129
rs1437813592
87 V>L No ClinGen
gnomAD
CA333408983
rs756257741
90 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA333408985
rs199638136
92 L>R No ClinGen
1000Genomes
TOPMed
gnomAD
CA413878273
rs1310535411
108 C>R No ClinGen
gnomAD
rs1233601738
CA413878284
109 Y>C No ClinGen
gnomAD
rs1350296819
CA413878303
112 P>H No ClinGen
gnomAD
rs758731712
CA10482127
112 P>S No ClinGen
ExAC
gnomAD
CA413878312
rs1272203739
CA413878313
113 S>R No ClinGen
TOPMed
gnomAD
CA10482128
rs764643180
115 N>S No ClinGen
ExAC
gnomAD
CA333408997
rs909876612
118 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 124 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1042733649
CA333409000
125 V>A No ClinGen
TOPMed
CA413878398
rs1429776081
126 G>D No ClinGen
TOPMed
rs757375834
CA10482130
131 I>M No ClinGen
ExAC
gnomAD
CA413878446
rs1166253084
133 R>K No ClinGen
gnomAD
rs1354325399
CA413878455
134 V>A No ClinGen
gnomAD
rs745999698
CA10482132
137 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1304234866
CA413878507
141 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 144 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413878528
rs1373547947
145 Q>K No ClinGen
gnomAD
rs142271331
CA10482135
RCV000901862
153 V>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1163731893
CA413878592
154 H>Y No ClinGen
gnomAD
CA10482137
rs773092644
157 E>K No ClinGen
ExAC
gnomAD
rs1212589230
CA413878620
158 T>A No ClinGen
gnomAD
rs746952336
CA10482138
159 S>A No ClinGen
ExAC
gnomAD
rs1316445875
CA413878634
160 D>G No ClinGen
TOPMed
CA413878635
rs1316445875
160 D>V No ClinGen
TOPMed
CA333409010
rs774739815
161 S>T No ClinGen
TOPMed
rs1603031395
CA413878674
166 T>S No ClinGen
Ensembl
rs770370082
CA10482139
166 T>S No ClinGen
ExAC
gnomAD
CA333409013
rs934131433
169 R>G No ClinGen
TOPMed
rs148686737
CA10482140
170 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 171 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10482141
rs759114712
174 Q>K No ClinGen
ExAC
TOPMed
gnomAD
CA10482142
rs764913469
177 P>L No ClinGen
ExAC
gnomAD
CA413878754
rs1348705148
178 E>K No ClinGen
gnomAD
CA333409020
rs900747612
181 L>* No ClinGen
gnomAD
rs900747612
CA413878778
181 L>S No ClinGen
gnomAD
CA413878814
rs1432927475
COSM1464657
186 S>R large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs866332926
CA333409025
194 N>S No ClinGen
Ensembl
CA413878877
rs1168156657
195 E>A No ClinGen
TOPMed
TCGA novel 199 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1603031483
CA413878919
201 I>N No ClinGen
Ensembl
TCGA novel 206 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1273679011
CA413878963
207 Q>* No ClinGen
gnomAD
CA413878970
rs1184958100
208 P>T No ClinGen
TOPMed
CA413878980
rs1469440817
209 E>V No ClinGen
gnomAD
rs757810847
CA10482146
212 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA10482147
rs757821858
213 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs768200842
CA10482148
214 S>N No ClinGen
ExAC
gnomAD
CA10482164
rs774847325
221 L>F No ClinGen
ExAC
gnomAD
CA413879572
rs1257636188
228 W>R No ClinGen
TOPMed
rs151247663
CA10482167
229 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 232 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413879637
rs1158137958
233 N>H No ClinGen
TOPMed
gnomAD
rs139827001
CA333410318
233 N>S No ClinGen
ESP
TOPMed
TCGA novel 234 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 235 P>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 235 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1603036701
CA413879676
235 P>T No ClinGen
Ensembl
TCGA novel 247 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1112545
CA333410325
rs975208319
248 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA413879867
rs1413989206
248 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA333410327
rs866036200
253 P>H No ClinGen
Ensembl
rs896739956
CA333410329
257 M>V No ClinGen
Ensembl
rs754033371
CA10482171
259 E>G No ClinGen
ExAC
gnomAD
CA413880082
rs1439938887
262 Q>* No ClinGen
TOPMed
gnomAD
rs1439938887
CA413880080
262 Q>K No ClinGen
TOPMed
gnomAD
CA10482184
rs772593826
266 E>K No ClinGen
ExAC
gnomAD
CA413880178
rs772593826
266 E>Q No ClinGen
ExAC
gnomAD
rs1328136951
CA413880210
270 S>I No ClinGen
gnomAD
TCGA novel 274 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333410664
rs368227453
275 S>L No ClinGen
ESP
TOPMed
TCGA novel 276 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413880275
rs1250154668
280 N>H No ClinGen
TOPMed
TCGA novel 282 L>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1355006563
CA413880293
283 C>R No ClinGen
gnomAD
CA10482185
rs773699747
284 P>S No ClinGen
ExAC
gnomAD
CA10482186
rs747290932
289 S>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs766967950
CA10482187
291 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA333410668
rs866642080
COSM1112549
291 R>W Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA413880356
rs1195556996
292 V>I No ClinGen
gnomAD
TCGA novel 293 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA333410674
rs903045587
301 Y>C No ClinGen
TOPMed
TCGA novel 302 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10482190
rs765424032
304 K>E No ClinGen
ExAC
gnomAD
rs1211972970
CA413880435
304 K>R No ClinGen
gnomAD
rs1454721453
CA413880493
312 Q>* No ClinGen
gnomAD
CA10482192
rs757007958
316 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs780973470
CA10482193
325 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 325 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs750320331
CA10482194
326 M>T No ClinGen
ExAC
gnomAD
COSM1643912
CA413880583
rs1167086272
326 M>V stomach [Cosmic] No ClinGen
cosmic curated
gnomAD
rs771312533
CA10482204
333 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs768026639
CA10482205
333 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1259974271
CA413879090
335 P>L No ClinGen
gnomAD
TCGA novel 340 I>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10482208
rs775626783
342 I>V No ClinGen
ExAC
gnomAD
CA413879138
rs1373438640
343 P>T No ClinGen
gnomAD
CA413879159
rs1160561707
345 K>N No ClinGen
TOPMed
CA10482210
COSM3694263
rs764438772
351 W>C large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 353 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413879221
rs1440323427
354 P>L No ClinGen
TOPMed
CA413879252
rs1461549702
359 R>* No ClinGen
TOPMed
gnomAD
CA10482211
rs746611349
359 R>Q No ClinGen
ExAC
gnomAD
CA413879296
rs1171726861
364 S>P No ClinGen
TOPMed
CA10482224
rs776966238
367 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs1489168647
CA413879321
368 D>N No ClinGen
gnomAD
rs746381872
CA10482225
369 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 372 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769809960
CA10482226
377 V>I No ClinGen
ExAC
TOPMed
TCGA novel 379 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256787638
CA413879457
380 L>P No ClinGen
TOPMed
gnomAD
TCGA novel 383 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM302020
rs570540571
CA10482228
389 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1216884286
CA413879555
389 R>W No ClinGen
TOPMed
TCGA novel 391 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296994994
CA413879675
396 R>C No ClinGen
gnomAD
rs1296994994
CA413879674
396 R>G No ClinGen
gnomAD
CA333411846
rs1049736992
396 R>H No ClinGen
TOPMed
gnomAD
rs1396371882
CA413879697
398 D>H No ClinGen
gnomAD
CA413879795
rs749313972
405 I>F No ClinGen
ExAC
gnomAD
CA10482245
rs749313972
405 I>V No ClinGen
ExAC
gnomAD
rs1474689821
CA413879835
408 A>T No ClinGen
TOPMed
CA10482246
rs768810037
408 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs774367478
CA10482247
409 D>N No ClinGen
ExAC
gnomAD
rs1312587366
CA413879855
410 G>S No ClinGen
gnomAD
CA333411851
rs147686087
420 L>P No ClinGen
ESP
gnomAD
TCGA novel 421 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413880040
rs1480260983
425 Q>* No ClinGen
gnomAD
CA413880074
rs1239473371
427 E>D No ClinGen
gnomAD
CA413880134
rs1192645136
433 Y>C No ClinGen
gnomAD
CA10482251
COSM1464663
rs759470874
434 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA10482258
CA413880608
rs780859177
435 M>I No ClinGen
ExAC
gnomAD
rs1008261733
CA333411855
435 M>V No ClinGen
TOPMed
rs771267893
CA333412332
451 Q>K No ClinGen
1000Genomes
TCGA novel 453 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150241144
CA333412337
458 L>H No ClinGen
ESP
CA413880784
rs1339817943
461 T>K No ClinGen
TOPMed
CA10482262
rs749829513
464 S>N No ClinGen
ExAC
gnomAD
rs373154363
CA10482263
465 G>* No ClinGen
ESP
ExAC
gnomAD
TCGA novel 465 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196268633
CA413882074
476 Y>C No ClinGen
gnomAD
COSM25486
CA10482281
rs755480947
477 T>M Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
rs369412417
CA333412485
478 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs369412417
CA413882105
478 Y>S No ClinGen
gnomAD
rs1398975091
CA413882130
480 A>T No ClinGen
gnomAD
CA10482285
rs758566020
481 K>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 484 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413882220
rs1420133704
486 I>V No ClinGen
TOPMed
gnomAD
rs747264055
CA10482287
487 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA10482289
rs202230345
496 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA413882364
rs1283178322
500 N>S No ClinGen
gnomAD
rs749074460
CA10482290
501 M>T No ClinGen
ExAC
gnomAD
CA413882398
rs1384610432
505 G>A No ClinGen
gnomAD
rs1239685787
CA413882485
518 K>T No ClinGen
gnomAD
rs774209799
CA10482292
520 S>G No ClinGen
ExAC
gnomAD
TCGA novel 520 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413882527
rs1380728742
524 K>E No ClinGen
gnomAD
rs1234528810
CA413882640
525 V>A No ClinGen
gnomAD
CA10482310
rs774308946
527 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA413882692
rs1214332024
529 L>S No ClinGen
gnomAD
rs1281951595
CA413882739
532 I>M No ClinGen
gnomAD
CA10482312
rs772048182
532 I>T No ClinGen
ExAC
gnomAD
CA333412725
rs1021729178
532 I>V No ClinGen
TOPMed
rs772680443
CA413882755
533 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA10482314
rs760246775
539 I>T No ClinGen
ExAC
gnomAD
CA333412731
rs865959217
541 D>E No ClinGen
Ensembl
CA413882890
rs1252390916
541 D>N No ClinGen
gnomAD
CA10482315
rs766003380
543 Q>* No ClinGen
ExAC
gnomAD
TCGA novel 551 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413883033
rs1201178458
552 I>V No ClinGen
gnomAD
CA413883058
rs1248371100
555 I>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs759877652
CA10482317
558 A>V No ClinGen
ExAC
gnomAD
CA333412736
rs143793727
560 K>E No ClinGen
ESP
gnomAD
CA10482318
rs777544059
561 Y>D No ClinGen
1000Genomes
ExAC
gnomAD
CA413883165
rs1296540761
571 A>P No ClinGen
TOPMed
CA10482322
rs751682107
571 A>V No ClinGen
ExAC
gnomAD
CA333412747
rs199703952
573 A>V No ClinGen
Ensembl
CA333412749
rs749257018
574 S>L No ClinGen
Ensembl
rs1224511266
CA413883209
578 R>Q No ClinGen
gnomAD
CA413883206
rs1325170958
578 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs148169764
CA10482352
584 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413883263
rs1376522964
585 T>A No ClinGen
gnomAD
CA10482356
rs745421533
589 A>V No ClinGen
ExAC
gnomAD
CA413883293
rs1340641709
590 R>G No ClinGen
TOPMed
CA10482357
rs769323802
591 V>I No ClinGen
ExAC
gnomAD
TCGA novel 592 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
VAR_028816
rs5962707
CA10482358
593 I>M No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA333412886
rs867127195
593 I>V No ClinGen
Ensembl
CA333412890
rs1039038876
597 N>S No ClinGen
TOPMed
gnomAD
CA413883363
rs1457081415
COSM1464667
600 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA413883371
rs1178680976
601 H>R No ClinGen
gnomAD
CA413883392
rs1310362627
604 D>H No ClinGen
TOPMed
rs763348053
CA10482359
605 E>D No ClinGen
ExAC
gnomAD
rs1381658400
CA413883399
605 E>K No ClinGen
gnomAD
rs765603048
CA333412893
606 P>L No ClinGen
Ensembl
rs1365373760
CA413883437
610 Q>H No ClinGen
TOPMed
CA10482360
rs769142651
610 Q>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 615 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413883485
rs1296863647
617 T>I No ClinGen
gnomAD
rs768111415
CA10482363
618 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs750467468
CA10482364
620 S>G No ClinGen
ExAC
TOPMed
gnomAD
CA413883546
rs1471635813
624 K>* No ClinGen
TOPMed
rs1049961194
CA333412901
631 P>L No ClinGen
TOPMed
gnomAD
CA413883720
rs1009095037
633 A>S No ClinGen
TOPMed
gnomAD
rs1009095037
CA333412903
633 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1235115625
CA413883737
635 P>L No ClinGen
gnomAD
rs1218789175
CA413884593
638 V>I No ClinGen
gnomAD
rs1218789175
CA413884597
638 V>L No ClinGen
gnomAD
CA10482381
rs748615705
639 P>T No ClinGen
ExAC
gnomAD
CA413884687
rs137926336
641 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs137926336
CA10482382
641 P>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773785255
CA10482383
642 G>E No ClinGen
ExAC
gnomAD
rs760605992
CA10482384
643 A>V No ClinGen
ExAC
gnomAD
CA333414041
rs868360080
644 S>Y No ClinGen
Ensembl
CA413884764
rs1391876184
646 Q>K No ClinGen
TOPMed
rs375574266
CA333414045
647 T>A No ClinGen
ESP
TOPMed
gnomAD
rs142495888
CA10482386
649 G>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10482387
COSM301171
rs759731966
652 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
CA413884981
rs1415929783
653 G>V No ClinGen
gnomAD
rs757129526
CA10482390
655 P>L No ClinGen
ExAC
rs1424254872
CA413885051
656 S>G No ClinGen
gnomAD
rs1161808565
CA413885139
659 N>S No ClinGen
gnomAD
rs767297602
CA10482391
660 R>C No ClinGen
ExAC
gnomAD
rs765429808
CA10482405
661 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA10482406
rs150560497
661 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA413887021
rs1357231261
667 N>D No ClinGen
gnomAD
CA413887053
rs1446753780
669 Q>R No ClinGen
gnomAD
rs1262535557
CA413887071
670 G>E No ClinGen
TOPMed
rs1303063712
CA413887098
672 A>T No ClinGen
gnomAD
TCGA novel 674 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761443853
CA10482407
675 T>A No ClinGen
ExAC
gnomAD
rs1242980968
CA413887172
676 I>T No ClinGen
gnomAD
rs767372773
CA10482408
676 I>V Variant assessed as Somatic; 0.0003762 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA413887187
rs1276876566
677 S>N No ClinGen
gnomAD
CA413887214
rs1442211915
678 D>E No ClinGen
gnomAD
TCGA novel 678 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413887255
rs1325556777
680 W>* No ClinGen
TOPMed
CA333416023
rs1000366615
681 E>K No ClinGen
Ensembl
rs182010941
CA10482409
682 S>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1033181298
CA413887384
CA333416029
COSM1112576
687 E>D Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs766494208
CA10482411
687 E>V No ClinGen
ExAC
gnomAD
rs753387931
CA10482412
688 K>R No ClinGen
ExAC
gnomAD
TCGA novel 691 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 691 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778643864
CA10482414
693 I>M No ClinGen
ExAC
gnomAD
rs1160233770
CA413887499
693 I>T No ClinGen
gnomAD
CA413887505
rs1359519271
694 D>N No ClinGen
TOPMed
rs1413691167
CA413887515
695 H>Y No ClinGen
TOPMed
gnomAD
rs566763673
CA333416035
697 H>R No ClinGen
TOPMed
TCGA novel 697 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752426407
CA10482415
698 Y>C No ClinGen
ExAC
gnomAD
CA413887552
rs1404746663
700 R>C No ClinGen
TOPMed
COSM1169177
CA10482416
rs139595497
700 R>H pancreas [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10482419
rs747373668
702 Y>H No ClinGen
ExAC
gnomAD
CA10482418
rs747373668
702 Y>N No ClinGen
ExAC
gnomAD
rs144581178
CA10482421
703 P>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs144581178
CA10482420
703 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 704 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769865919
CA10482422
706 I>L No ClinGen
ExAC
gnomAD
rs763255993
COSM3843120
CA10482424
708 R>Q Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10482423
rs775530156
COSM1661343
708 R>W kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10482425
rs139787193
709 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 712 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773059352
CA10482426
715 R>S No ClinGen
ExAC
gnomAD
rs145336776
CA10482427
719 S>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10482428
rs766364629
722 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs969939256
CA333416053
722 Y>H No ClinGen
TOPMed
CA333416056
rs1027038132
727 A>S No ClinGen
Ensembl
rs147676341
CA10482429
727 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 728 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1196926191
CA413887759
730 V>A No ClinGen
TOPMed
gnomAD
CA10482431
rs764825632
734 G>* No ClinGen
ExAC
gnomAD
CA413887784
rs1177634348
734 G>A No ClinGen
gnomAD
TCGA novel 738 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs952432802
CA333416065
740 D>Y No ClinGen
Ensembl
CA333416068
rs980017985
741 D>E No ClinGen
TOPMed
gnomAD
TCGA novel 741 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 743 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1256515568
CA413887850
744 S>C No ClinGen
TOPMed
CA10482435
rs751905627
745 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA333416073
rs751905627
745 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA10482434
rs777354939
745 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA333416075
rs369836821
746 R>* No ClinGen
ESP
TOPMed
CA10482436
COSM1112586
rs757628984
746 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs781610685
CA10482437
751 F>C No ClinGen
ExAC
gnomAD
CA10482438
rs373355432
755 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA333417060
rs866793735
760 H>N No ClinGen
Ensembl
CA10482453
rs201227251
760 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs763743766
CA10482454
761 E>A No ClinGen
ExAC
gnomAD
TCGA novel 763 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA413888493
rs751214007
765 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10482455
rs751214007
765 D>Y No ClinGen
ExAC
TOPMed
gnomAD
CA10482458
rs767889232
770 P>L No ClinGen
ExAC
rs750833100
CA10482459
771 M>V No ClinGen
ExAC
gnomAD
rs756643724
CA10482460
773 C>F No ClinGen
ExAC
gnomAD
rs1342566837
CA413888610
774 P>T No ClinGen
gnomAD
rs749335623
CA10482462
777 I>T No ClinGen
ExAC
gnomAD
CA10482461
rs201720137
777 I>V No ClinGen
ExAC
gnomAD
rs1357148175
CA413888672
778 R>* No ClinGen
gnomAD
rs755021752
CA10482463
778 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA413888829
rs1448318633
789 M>T No ClinGen
gnomAD
CA10482465
rs748404348
789 M>V No ClinGen
ExAC
gnomAD
rs1184976978
CA413888880
791 Y>* No ClinGen
gnomAD
CA333417081
rs373429502
794 A>V No ClinGen
ESP
gnomAD
TCGA novel 795 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200280161
CA10482467
798 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA10482466
rs200280161
798 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA413889045
rs1316743747
798 D>Y No ClinGen
gnomAD
rs1280451655
CA413889102
800 T>I No ClinGen
TOPMed
rs1413350929
CA413889124
801 G>V No ClinGen
TOPMed
CA10482468
rs377553613
803 D>N No ClinGen
ESP
ExAC
gnomAD
CA10482469
rs146117325
803 D>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1419661345
CA413889188
804 R>* No ClinGen
gnomAD
CA10482470
rs151274803
804 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs761429928
CA10482474
COSM1112590
810 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA413889352
rs1307225446
811 V>A No ClinGen
TOPMed
gnomAD
CA413889359
rs1351358970
812 A>T No ClinGen
gnomAD
rs775455585
CA10482497
814 D>N No ClinGen
ExAC
gnomAD
rs749201135
CA10482498
815 I>V No ClinGen
ExAC
gnomAD
rs768685513
CA10482499
820 T>A No ClinGen
ExAC
gnomAD
CA413889572
rs1230756093
824 R>G No ClinGen
gnomAD
rs759930057
CA333418477
825 V>M No ClinGen
gnomAD
rs199864873
CA10482500
828 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10482501
rs184295976
829 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10482502
rs188839866
833 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs772860329
CA10482503
834 C>S No ClinGen
ExAC
gnomAD
rs1233150837
CA413889659
837 G>S No ClinGen
TOPMed
TCGA novel 838 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1431986748
CA413889674
839 N>D No ClinGen
TOPMed
gnomAD
CA10482504
rs760344396
844 Y>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766677315
CA10482505
846 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10482506
rs754278508
850 S>N No ClinGen
ExAC
gnomAD
rs759931639
COSM1112596
CA10482507
852 E>D Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1466189752
CA413889786
854 T>I No ClinGen
gnomAD

No associated diseases with Q6NSI4

No regional properties for Q6NSI4

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q6NSI4

Functions

Description
EC Number
Subcellular Localization
  • Chromosome
  • Recruited to replication forks
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
replication fork The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.

2 GO annotations of molecular function

Name Definition
RNA binding Binding to an RNA molecule or a portion thereof.
single-stranded DNA binding Binding to single-stranded DNA.

2 GO annotations of biological process

Name Definition
negative regulation of double-strand break repair via homologous recombination Any process that stops, prevents, or reduces the frequency, rate or extent of double-strand break repair via homologous recombination.
regulation of DNA repair Any process that modulates the frequency, rate or extent of DNA repair.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8C779 Radx RPA-related protein RADX Mus musculus (Mouse) PR
B2GV47 Radx RPA-related protein RADX Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSGESGQPEA GPSHAGLDWP NPERNRAGVP GGVIRRAGSQ GPRSWIQKVL EQIMDSPRQC
70 80 90 100 110 120
VTPSEVVPVT VLAVQRYLLE DEPRDTVPKP PLYCYDVTIS DGVYQEKCYL DPSLNSLVYQ
130 140 150 160 170 180
NILKVGIQMR ISRVSCLYNE KRIGQGILCI DNVHCGETSD SISLETPFRN RAHQEKPERP
190 200 210 220 230 240
LRGGKSHYLA LWNNEDPYGD IWLTDKQPEE HNFSDTKIIS LSHLEMTWTN RRNFPALLVR
250 260 270 280 290 300
ILHKSKLRYY GKPDKKMIEP YQTFLEVADS SGTVSVIMWN ALCPEWYKSL RVGLVLLLQD
310 320 330 340 350 360
YSVKKSYPFR IQPVPVDPQI KLISTMEICL NLRDPPTNII IIPEKQVKPE WRLPKLNHRF
370 380 390 400 410 420
TTRSELDDMP ENCICDVIGL LVFVGRVQRS KKKENREDFW SYRWIHIADG TSEQPFIVEL
430 440 450 460 470 480
FSTSQPEIFE NIYPMAYFVC TQLKVVRNDN QVPKLLYLTT TNESGVFITG HRGQPYTYDA
490 500 510 520 530 540
KVKNFIQWIR TKSDSGEQKN MVIGGYYPYP PVPETFSKYS SSIKVESLLT AISEVRKEIE
550 560 570 580 590 600
DLQYREQKRI AIQGIITAIK YIPHSSATES ASASETLRNA NRPSTSQAAR VEIQERNGKR
610 620 630 640 650 660
HQDDEPVNSQ YFQTTSTNLS LSNKIRILQG PHANPVAVPQ PGASVQTKGI KPGMPSIFNR
670 680 690 700 710 720
RANINANLQG KARKTISDRW ESQLWREKKF GLIDHLHYSR VYPESIPRKF MFEHRKFLSD
730 740 750 760 770 780
QYNSQPAKYV PPEGRPPKLD DFKSARSLGH FEVTILGLNH EIAIDVAFLP MYCPEDIRTS
790 800 810 820 830 840
QIDTLLTSMN YSCAYPQDTT GNDRLPGPRA VAGDIIKAAT ELDRVHIVGI LDICNLGNNK
850
VEVYLHKIYS PENTS