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 Q6IN85

Entry ID Method Resolution Chain Position Source
6R8I X-ray 152 A A 1-117 PDB
AF-Q6IN85-F1 Predicted AlphaFoldDB

366 variants for Q6IN85

Variant ID(s) Position Change Description Diseaes Association Provenance
rs765108460
CA7311060
5 R>Q No ClinGen
ExAC
gnomAD
CA390634604
rs1313747322
5 R>W No ClinGen
gnomAD
rs950227605
CA265558414
8 V>G No ClinGen
Ensembl
TCGA novel 9 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390634550
rs1350272476
9 K>R No ClinGen
gnomAD
rs774324266
CA7311055
12 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA7311053
rs763429914
13 L>F No ClinGen
ExAC
gnomAD
TCGA novel 21 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770515342
CA7311048
28 S>L No ClinGen
ExAC
gnomAD
rs1006713516
CA265558364
30 G>S No ClinGen
TOPMed
CA390634219
rs1308779029
35 L>Q No ClinGen
gnomAD
CA390634215
rs1308779029
35 L>R No ClinGen
gnomAD
CA390634178
rs1331261315
38 M>L No ClinGen
TOPMed
CA265558331
rs200747494
39 S>C No ClinGen
1000Genomes
ExAC
gnomAD
rs200747494
CA390634156
39 S>F No ClinGen
1000Genomes
ExAC
gnomAD
CA7311044
rs200747494
39 S>Y No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 40 L>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1402932705
CA390634114
43 R>K No ClinGen
gnomAD
CA390634099
rs1308910988
44 A>S No ClinGen
TOPMed
gnomAD
CA390634073
rs1169758979
46 S>G No ClinGen
gnomAD
CA390634066
rs1434262934
46 S>N No ClinGen
gnomAD
CA390634055
rs1197882486
47 D>N No ClinGen
gnomAD
TCGA novel 52 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201169979
CA390628953
52 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1363552449
CA390628936
54 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7311006
rs761101764
60 T>I No ClinGen
ExAC
gnomAD
rs1223030716
CA390628708
68 T>A No ClinGen
gnomAD
rs908206251
CA265536150
77 N>S No ClinGen
TOPMed
CA265536132
rs759120978
89 G>V No ClinGen
Ensembl
CA390628221
rs1324778079
95 E>A No ClinGen
gnomAD
CA7310962
rs751192835
107 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1049300288
CA265533744
109 I>M No ClinGen
TOPMed
rs1177105600
CA390626572
109 I>V No ClinGen
gnomAD
rs1198339093
CA390626472
114 V>M No ClinGen
gnomAD
rs1455405600
CA390626427
116 E>K No ClinGen
TOPMed
rs751288688
CA265533740
116 E>V No ClinGen
Ensembl
CA390626412
rs1470388848
117 S>Y No ClinGen
gnomAD
rs752287387
CA7310959
121 R>H No ClinGen
ExAC
gnomAD
CA7310958
rs764698174
125 M>L No ClinGen
ExAC
gnomAD
rs759497847
CA7310957
125 M>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 125 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1321945223
CA390626247
127 S>L No ClinGen
gnomAD
rs1321945223
CA390626249
127 S>W No ClinGen
gnomAD
TCGA novel 128 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390626222
rs1224740650
129 G>A No ClinGen
gnomAD
TCGA novel 134 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs78124650
CA265533681
135 C>S No ClinGen
Ensembl
TCGA novel 137 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7310953
rs768951187
139 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs768951187
CA7310952
139 R>L No ClinGen
ExAC
gnomAD
rs780157659
CA7310950
146 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs746372581
CA7310948
147 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7310946
rs757637900
154 P>S No ClinGen
ExAC
gnomAD
CA390625879
rs1409851996
156 R>H No ClinGen
gnomAD
rs1171077154
CA390625862
157 R>C No ClinGen
gnomAD
rs751996385
CA7310945
157 R>H No ClinGen
ExAC
gnomAD
CA390625812
rs1567154553
159 K>R No ClinGen
Ensembl
rs1460024126
CA390625688
165 E>D No ClinGen
gnomAD
CA390625627
rs1319137050
167 E>D No ClinGen
gnomAD
CA390625645
rs1243118522
167 E>K Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7310942
rs752344182
167 E>V No ClinGen
ExAC
TOPMed
gnomAD
CA390625619
rs935835317
168 G>C No ClinGen
TOPMed
gnomAD
CA390625617
rs1180395101
168 G>D No ClinGen
TOPMed
CA265533573
rs935835317
168 G>R No ClinGen
TOPMed
gnomAD
rs1282534136
CA390625605
169 Y>D No ClinGen
TOPMed
gnomAD
CA390625591
rs1282534136
169 Y>H No ClinGen
TOPMed
gnomAD
CA7310941
rs764794753
170 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1352440378
CA390625538
171 K>R No ClinGen
gnomAD
rs760418868
CA7310937
178 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA7310938
rs200456384
178 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA7310935
rs771809496
179 V>A No ClinGen
ExAC
gnomAD
CA390625357
rs1158064030
179 V>M No ClinGen
TOPMed
TCGA novel 180 C>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775640436
CA390625280
183 L>M No ClinGen
ExAC
TOPMed
gnomAD
rs769845796
CA7310932
183 L>S No ClinGen
ExAC
TOPMed
gnomAD
CA7310933
rs775640436
183 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs745959269
CA7310931
185 N>S No ClinGen
ExAC
gnomAD
rs781746912
CA7310930
186 I>T No ClinGen
ExAC
gnomAD
TCGA novel 187 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770307956
CA7310928
189 L>QV* No ClinGen
ExAC
CA265533479
rs376796437
192 L>F No ClinGen
ESP
TOPMed
gnomAD
CA265533464
rs373332248
193 Y>C No ClinGen
ESP
TOPMed
rs771597992
CA7310927
193 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 194 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 194 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775499610
CA265533458
195 I>L No ClinGen
Ensembl
CA390625107
rs1215606759
195 I>T No ClinGen
gnomAD
rs775499610
CA390625111
195 I>V No ClinGen
Ensembl
rs1349110500
CA390625076
197 K>R No ClinGen
TOPMed
rs1228391484
CA390625048
199 I>S No ClinGen
TOPMed
CA390625022
rs1292115993
201 L>I No ClinGen
gnomAD
CA7310925
rs778179619
204 R>Q No ClinGen
ExAC
gnomAD
rs758752190
CA7310924
206 A>T No ClinGen
ExAC
gnomAD
CA390624919
rs1287028931
209 E>K No ClinGen
gnomAD
rs1323035299
CA390624789
218 M>L No ClinGen
gnomAD
rs1323035299
CA390624788
218 M>V No ClinGen
gnomAD
CA390624755
rs756021186
219 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA7310919
rs765911270
219 D>G No ClinGen
ExAC
gnomAD
CA265533392
rs886135544
220 V>A No ClinGen
TOPMed
gnomAD
rs750383941
CA7310917
220 V>I No ClinGen
ExAC
gnomAD
CA7310916
rs767339965
221 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA7310913
rs533591917
226 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1224284352
CA390624615
227 D>E No ClinGen
TOPMed
gnomAD
rs759650627
CA7310912
227 D>G No ClinGen
ExAC
gnomAD
CA7310911
rs776823120
231 S>L No ClinGen
ExAC
gnomAD
rs771187036
CA7310910
232 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA390624534
rs1420697845
233 P>A No ClinGen
TOPMed
CA390624516
rs1204669997
234 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs374959471
CA265533335
238 E>V No ClinGen
ESP
rs78875778
CA265533334
241 T>K No ClinGen
Ensembl
TCGA novel 243 T>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390624403
rs1293395184
244 A>S No ClinGen
gnomAD
CA7310908
rs773664066
245 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 248 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA265533317
rs879003474
252 I>M No ClinGen
Ensembl
TCGA novel 260 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 262 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1352814952
CA390623799
273 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA7310904
rs754591155
273 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA7310903
rs748987963
276 P>R No ClinGen
ExAC
gnomAD
rs1470565172
CA390623734
277 T>A No ClinGen
gnomAD
TCGA novel 278 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7310902
rs779523621
279 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1312920705
CA390623493
288 T>R No ClinGen
TOPMed
rs867665153
CA390623470
290 H>N No ClinGen
gnomAD
rs867665153
CA265533275
290 H>Y No ClinGen
gnomAD
CA7310900
rs750307811
292 F>L No ClinGen
ExAC
gnomAD
CA7310898
rs757028562
293 I>V No ClinGen
ExAC
gnomAD
CA390621697
rs1325330384
309 K>E No ClinGen
gnomAD
rs1290942967
CA390621646
312 T>I No ClinGen
gnomAD
CA7310881
rs781144838
317 Q>H No ClinGen
ExAC
gnomAD
CA390621549
rs1157643037
319 T>I No ClinGen
gnomAD
CA390621501
rs1386506625
323 T>A No ClinGen
gnomAD
CA7310879
rs751566194
324 D>V No ClinGen
ExAC
gnomAD
rs975008935
CA265530168
326 E>D No ClinGen
TOPMed
CA390621433
rs1441704692
328 R>G No ClinGen
gnomAD
CA7310859
rs780547287
332 V>I No ClinGen
ExAC
gnomAD
CA390621002
rs1201806768
334 F>L No ClinGen
TOPMed
rs746918216
CA7310857
338 F>L No ClinGen
ExAC
gnomAD
rs777862008
CA7310856
339 C>F No ClinGen
ExAC
gnomAD
rs758213999
CA7310855
340 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA390620849
rs1463941060
344 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1171310106
CA390620846
345 L>Q No ClinGen
TOPMed
rs1373545401
CA390620822
348 Q>H No ClinGen
TOPMed
CA390620793
rs1431605008
352 A>G No ClinGen
TOPMed
rs756265570
CA7310852
354 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA7310851
rs750713194
357 L>M No ClinGen
ExAC
gnomAD
rs1198398439
CA390620751
358 S>L No ClinGen
gnomAD
CA390620741
rs1405335769
360 M>V No ClinGen
TOPMed
TCGA novel 362 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376854978
CA7310847
362 I>V No ClinGen
ExAC
gnomAD
CA390620709
rs1294860116
364 P>L No ClinGen
TOPMed
CA7310846
rs763263594
368 V>L No ClinGen
ExAC
gnomAD
TCGA novel 371 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758881648
CA7310822
372 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs983822366
CA265529352
372 M>T No ClinGen
TOPMed
gnomAD
rs753263157
CA7310821
373 D>G No ClinGen
ExAC
gnomAD
CA390620644
rs1337336412
373 D>N No ClinGen
gnomAD
rs765517627
CA390620631
CA7310820
374 D>E No ClinGen
ExAC
gnomAD
rs140684085
CA390620608
378 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140684085
CA7310819
378 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390620601
rs1595062053
379 S>N No ClinGen
Ensembl
CA7310818
rs776093984
382 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs766082516
CA7310817
384 I>M No ClinGen
ExAC
gnomAD
rs1157047022
CA390620564
384 I>T No ClinGen
gnomAD
rs754204744
CA265529289
384 I>V No ClinGen
Ensembl
TCGA novel 387 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390620497
rs1185972729
389 V>A No ClinGen
gnomAD
CA265529273
rs959473713
390 E>D No ClinGen
gnomAD
CA390620420
rs1217042715
395 M>T No ClinGen
gnomAD
rs760440115
CA7310816
395 M>V No ClinGen
ExAC
gnomAD
TCGA novel 398 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs150940624
CA7310815
398 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748091651
CA7310813
401 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA7310812
rs774347968
402 Q>L No ClinGen
ExAC
gnomAD
TCGA novel 406 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7310811
rs372384377
407 N>S No ClinGen
ESP
ExAC
gnomAD
CA390620150
rs1567151518
408 D>N No ClinGen
Ensembl
CA390620136
rs1376958785
409 D>N No ClinGen
gnomAD
rs749129628
CA7310810
418 K>N No ClinGen
ExAC
gnomAD
CA265529245
rs766599822
419 I>M No ClinGen
Ensembl
rs1198163763
CA390619817
421 S>N No ClinGen
TOPMed
rs952737840
CA265526788
423 D>G No ClinGen
TOPMed
CA7310777
rs780559000
423 D>N No ClinGen
ExAC
gnomAD
CA7310776
rs143493713
424 I>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767298918
CA7310774
425 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1025873617
CA390618709
427 I>M No ClinGen
TOPMed
gnomAD
rs912288691
CA265526752
428 N>S No ClinGen
gnomAD
rs1453477370
CA390618661
430 I>F No ClinGen
TOPMed
rs751049083
CA7310772
433 H>Q No ClinGen
ExAC
gnomAD
rs1453949515
CA390618495
438 T>K No ClinGen
gnomAD
rs763562211
CA7310771
440 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs201007128
CA265526727
442 L>F No ClinGen
1000Genomes
rs762935380
CA7310770
448 L>F No ClinGen
ExAC
gnomAD
CA265526722
rs200834500
450 G>R No ClinGen
Ensembl
CA7310767
rs759343277
453 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1292921882
CA390618254
456 V>I No ClinGen
TOPMed
rs1595059474
CA390618237
457 D>A No ClinGen
Ensembl
CA390618171
rs1177941808
461 M>I No ClinGen
gnomAD
CA7310765
rs61752313
466 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA390618064
rs1465687620
467 K>R No ClinGen
Ensembl
CA390618009
rs1172954665
471 T>S No ClinGen
Ensembl
rs762031947
CA7310746
475 G>A No ClinGen
ExAC
gnomAD
CA390617919
rs1398530708
476 F>Y No ClinGen
gnomAD
CA7310743
rs749378173
479 K>N No ClinGen
ExAC
gnomAD
CA390617847
rs770385675
480 H>Q No ClinGen
ExAC
gnomAD
rs776110952
CA7310742
480 H>R No ClinGen
ExAC
gnomAD
rs1376343335
CA390617773
484 V>I No ClinGen
TOPMed
CA7310740
rs746399518
486 T>I No ClinGen
ExAC
gnomAD
CA390617614
rs1476702233
494 T>A No ClinGen
gnomAD
rs1199795807
CA390617602
495 E>K No ClinGen
gnomAD
CA7310738
rs757566591
500 K>T No ClinGen
ExAC
gnomAD
CA7310720
rs771311249
503 F>V No ClinGen
ExAC
gnomAD
rs1317806903
CA390617418
504 Q>H No ClinGen
TOPMed
rs533898148
CA265524695
508 L>V No ClinGen
1000Genomes
rs1219458748
CA390617377
511 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA390617272
rs1450307807
519 C>F No ClinGen
TOPMed
CA7310719
rs747379927
521 E>D No ClinGen
ExAC
gnomAD
CA7310717
rs757944827
528 K>R No ClinGen
ExAC
gnomAD
CA390617077
rs1567148879
531 I>V No ClinGen
Ensembl
rs778331899
CA7310715
538 R>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 538 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1595056842
CA390616876
540 V>A No ClinGen
Ensembl
rs1399292270
CA390616867
541 L>V No ClinGen
gnomAD
rs766278446
CA7310712
544 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs755909017
CA7310711
545 A>T No ClinGen
ExAC
gnomAD
TCGA novel 546 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 560 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761024848
CA7310681
563 I>L No ClinGen
ExAC
gnomAD
TCGA novel 568 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390615331
rs1400363234
572 R>C No ClinGen
gnomAD
CA7310676
rs768259398
579 L>F No ClinGen
ExAC
gnomAD
rs745788259
CA7310672
585 K>T No ClinGen
ExAC
TOPMed
gnomAD
CA7310671
rs781247545
586 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA390615120
rs1171916182
586 A>V No ClinGen
gnomAD
rs757094294
CA7310670
589 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA7310669
rs536770708
590 N>D No ClinGen
1000Genomes
ExAC
gnomAD
CA390615093
rs1460657977
590 N>S No ClinGen
TOPMed
rs777739532
CA7310668
591 G>R No ClinGen
ExAC
gnomAD
rs1485276355
CA390615080
592 S>P No ClinGen
gnomAD
rs1485276355
CA390615077
592 S>T No ClinGen
gnomAD
rs1246714322
CA390615061
593 R>H No ClinGen
gnomAD
rs1398570794
CA390633549
613 I>V No ClinGen
gnomAD
CA390633514
rs1595048268
618 A>S No ClinGen
Ensembl
CA390633500
rs1298018688
620 V>I No ClinGen
gnomAD
rs756118736
CA7310643
622 E>G No ClinGen
ExAC
gnomAD
rs757704936
CA7310640
630 D>N No ClinGen
ExAC
gnomAD
rs372908590
CA7310639
632 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 633 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763432828
CA7310637
634 V>I No ClinGen
ExAC
gnomAD
TCGA novel 640 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA390633306
rs1488985228
641 K>N No ClinGen
TOPMed
rs774983570
CA390633303
642 L>M No ClinGen
ExAC
gnomAD
CA7310636
rs774983570
642 L>V No ClinGen
ExAC
gnomAD
CA7310635
rs764979244
644 F>L No ClinGen
ExAC
gnomAD
CA390633273
rs1483443992
644 F>S No ClinGen
gnomAD
CA7310633
rs776229776
651 Q>* No ClinGen
ExAC
gnomAD
rs1263168352
CA390633171
652 D>N No ClinGen
Ensembl
rs1286753004
CA390633154
653 N>D No ClinGen
gnomAD
CA7310632
rs770575828
653 N>S No ClinGen
ExAC
gnomAD
rs1375412717
CA390633140
654 P>S No ClinGen
gnomAD
CA7310631
rs746871715
656 L>F No ClinGen
ExAC
gnomAD
CA390633098
rs1381733049
657 D>E No ClinGen
TOPMed
gnomAD
rs370036690
CA7310614
660 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1354471306
CA390632536
662 I>L No ClinGen
gnomAD
rs918863379
CA265562921
662 I>M No ClinGen
gnomAD
rs765980139
CA7310613
665 N>D No ClinGen
ExAC
gnomAD
CA390632477
rs1422204562
666 H>R No ClinGen
TOPMed
CA390632465
rs1382095599
667 R>K No ClinGen
gnomAD
CA265562912
rs935361912
669 R>Q No ClinGen
TOPMed
gnomAD
rs1370102345
CA390632393
671 D>V No ClinGen
gnomAD
rs1567144474
CA390632143
681 M>I No ClinGen
Ensembl
rs1210498171
CA390631925
690 M>V No ClinGen
gnomAD
rs774139925
CA7310607
691 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs1297849503
CA390631819
695 A>G No ClinGen
TOPMed
rs768342743
CA7310606
695 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA390631767
rs1318983606
698 S>P No ClinGen
gnomAD
rs180892588
CA7310604
702 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7310603
rs770975042
705 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1567144432
CA390631521
709 I>L No ClinGen
Ensembl
rs970991898
CA265562809
710 M>R No ClinGen
Ensembl
rs747131542
CA7310600
711 D>G No ClinGen
ExAC
gnomAD
rs1567144421
CA390631416
713 I>M No ClinGen
Ensembl
CA7310598
rs758888383
716 F>Y No ClinGen
ExAC
gnomAD
rs780589967
CA7310575
722 L>S No ClinGen
ExAC
gnomAD
rs1271878301
CA390631101
723 K>N No ClinGen
gnomAD
CA390631083
rs1349421784
725 S>G No ClinGen
TOPMed
gnomAD
rs1277497308
CA390631044
727 E>G No ClinGen
TOPMed
gnomAD
rs1232926138
CA390631017
728 K>N No ClinGen
gnomAD
TCGA novel 728 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs755772710
CA7310574
730 V>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 731 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1335114165
CA390630899
734 T>R No ClinGen
gnomAD
TCGA novel 735 N>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7310570
rs751492645
736 L>P No ClinGen
ExAC
gnomAD
rs201851813
CA265562287
737 S>C No ClinGen
Ensembl
CA7310569
rs763976950
738 G>R No ClinGen
ExAC
gnomAD
CA7310568
rs762908427
739 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA390630825
rs1173163762
739 R>W No ClinGen
TOPMed
gnomAD
CA7310567
rs757937284
741 S>I No ClinGen
ExAC
TOPMed
gnomAD
CA265562264
rs757937284
741 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA7310566
rs765029180
742 P>R No ClinGen
ExAC
rs889764726
CA265562240
744 F>L No ClinGen
TOPMed
gnomAD
rs1486480970
CA390630683
750 S>G No ClinGen
gnomAD
rs1384327040
CA390630677
750 S>T No ClinGen
TOPMed
rs141774507
CA7310564
752 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7310562
rs202092029
753 K>N No ClinGen
1000Genomes
ExAC
gnomAD
rs1221939886
CA390630621
754 T>I No ClinGen
gnomAD
CA7310561
rs774525152
755 N>H No ClinGen
ExAC
rs1349709630
CA390630613
755 N>T No ClinGen
gnomAD
rs749829204
CA7310559
756 L>P No ClinGen
ExAC
gnomAD
rs756614479
CA7310557
757 T>P No ClinGen
ExAC
gnomAD
rs1289007710
CA390630562
759 Q>R No ClinGen
TOPMed
CA7310556
rs535877362
760 S>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7310555
rs780757822
760 S>L No ClinGen
ExAC
gnomAD
rs149860251
CA7310554
762 T>A No ClinGen
ESP
ExAC
gnomAD
rs1037612500
CA265562162
763 T>A No ClinGen
gnomAD
rs750993627
CA7310553
763 T>R No ClinGen
ExAC
gnomAD
CA390630511
rs763617268
764 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA390630506
rs1415242026
764 N>S No ClinGen
gnomAD
CA7310552
rs763617268
764 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs752631714
CA390630497
765 L>M No ClinGen
ExAC
TOPMed
gnomAD
CA7310549
rs371876416
765 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA390630474
rs759382262
767 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs759382262
CA7310548
767 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7310547
rs773458405
769 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1332341494
CA390630434
770 G>A No ClinGen
gnomAD
CA265562092
rs918181214
772 P>A No ClinGen
gnomAD
rs774242522
CA7310544
773 G>R No ClinGen
ExAC
TCGA novel 776 G>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7310543
rs768864624
776 G>E No ClinGen
ExAC
gnomAD
rs1378090946
CA390630340
778 P>L No ClinGen
TOPMed
CA7310542
rs201142813
779 G>A No ClinGen
1000Genomes
ExAC
gnomAD
CA390630320
rs776197370
780 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA7310541
rs776197370
780 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139686419
CA7310535
784 V>I No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs139686419
CA265562051
784 V>L No ClinGen
1000Genomes
ESP
TOPMed
gnomAD
rs756809008
CA7310533
785 P>S No ClinGen
ExAC
rs746687953
CA7310532
787 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs573892996
CA7310530
791 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7310528
rs778869091
792 A>V No ClinGen
ExAC
gnomAD
rs1272249421
CA390630158
794 I>T No ClinGen
gnomAD
CA7310527
rs754768561
794 I>V No ClinGen
ExAC
gnomAD
rs753530016
CA7310526
796 T>A No ClinGen
ExAC
gnomAD
CA390630137
rs1309464900
796 T>R No ClinGen
TOPMed
rs189558489
CA7310504
801 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7310505
rs189558489
801 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1394428127
CA390629154
809 D>E No ClinGen
gnomAD
rs200723204
CA7310501
811 E>D No ClinGen
ESP
TOPMed
CA390629128
rs1420661348
813 D>G No ClinGen
gnomAD
CA7310500
rs150626793
813 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753823528
CA7310499
814 D>E No ClinGen
ExAC
gnomAD
rs1176401615
CA390629122
814 D>H No ClinGen
gnomAD
CA7310494
rs779713377
816 D>A No ClinGen
ExAC
CA390629096
rs1259842446
817 E>V No ClinGen
gnomAD
rs989940377
CA390629093
818 D>N No ClinGen
gnomAD
rs989940377
CA265559430
818 D>Y No ClinGen
gnomAD
rs924502502
CA265559407
820 E>D No ClinGen
Ensembl
rs955968587
CA265559409
820 E>V No ClinGen
Ensembl
rs764452668
CA7310491
822 T>M No ClinGen
ExAC
gnomAD
rs1028208566
CA265559406
823 L>S No ClinGen
gnomAD
CA265559398
rs867002947
824 P>L No ClinGen
Ensembl
rs964682464
CA265559363
833 S>* No ClinGen
TOPMed
rs771183788
CA7310485
833 S>P No ClinGen
ExAC
gnomAD
rs761146743
CA7310484
834 S>S No ClinGen
ExAC
TOPMed
gnomAD
rs199784699
CA7310482
834 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD

No associated diseases with Q6IN85

1 regional properties for Q6IN85

Type Name Position InterPro Accession
domain Serine/threonine-protein phosphatase 4 regulatory subunit 3-like, central domain 166 - 357 IPR006887

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm
  • Cytoplasm, cytoskeleton, microtubule organizing center, centrosome
  • Nucleus
  • In interphase localized in the cytoplasm and in the nucleus (with higher levels)
  • During metaphase located in pericentriolar regions
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
microtubule organizing center An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides.
nuclear speck A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
nucleoplasm That part of the nuclear content other than the chromosomes or the nucleolus.
protein phosphatase 4 complex A protein serine/threonine phosphatase complex formed by the catalytic subunit of protein phosphatase 4 plus one or more regulatory subunits.

1 GO annotations of molecular function

Name Definition
protein phosphatase activator activity Binds to and increases the activity of a protein phosphatase, an enzyme which catalyzes of the removal of a phosphate group from a protein substrate molecule.

2 GO annotations of biological process

Name Definition
cellular response to DNA damage stimulus Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism.
protein dephosphorylation The process of removing one or more phosphoric residues from a protein.

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q6P2K6 Ppp4r3a Serine/threonine-protein phosphatase 4 regulatory subunit 3A Mus musculus (Mouse) PR
Q6DFT3 ppp4r3b Serine/threonine-protein phosphatase 4 regulatory subunit 3 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
10 20 30 40 50 60
MTDTRRRVKV YTLNEDRQWD DRGTGHVSSG YVERLKGMSL LVRAESDGSL LLESKINPNT
70 80 90 100 110 120
AYQKQQDTLI VWSEAENYDL ALSFQEKAGC DEIWEKICQV QGKDPSVDIT QDLVDESEEE
130 140 150 160 170 180
RFDDMSSPGL ELPSCELSRL EEIAELVASS LPSPLRREKL ALALENEGYI KKLLELFHVC
190 200 210 220 230 240
EDLENIEGLH HLYEIIKGIF LLNRTALFEV MFSEECIMDV IGCLEYDPAL SQPRKHREFL
250 260 270 280 290 300
TKTAKFKEVI PISDPELKQK IHQTYRVQYI QDMVLPTPSV FEENMLSTLH SFIFFNKVEI
310 320 330 340 350 360
VGMLQEDEKF LTDLFAQLTD EATDEEKRQE LVNFLKEFCA FSQTLQPQNR DAFFKTLSNM
370 380 390 400 410 420
GILPALEVIL GMDDTQVRSA ATDIFSYLVE YNPSMVREFV MQEAQQNDDV SKKLTEQKIT
430 440 450 460 470 480
SKDILLINLI IEHMICDTDP ELGGAVQLMG LLRTLVDPEN MLATANKTEK TEFLGFFYKH
490 500 510 520 530 540
CMHVLTAPLL ANTTEDKPSK DDFQTAQLLA LVLELLTFCV EHHTYHIKNY IINKDILRRV
550 560 570 580 590 600
LVLMASKHAF LALCALRFKR KIIGLKDEFY NRYIMKSFLF EPVVKAFLNN GSRYNLMNSA
610 620 630 640 650 660
IIEMFEFIRV EDIKSLTAHV IENYWKALED VDYVQTFKGL KLRFEQQRER QDNPKLDSMR
670 680 690 700 710 720
SILRNHRYRR DARTLEDEEE MWFNTDEDDM EDGEAVVSPS DKTKNDDDIM DPISKFMERK
730 740 750 760 770 780
KLKESEEKEV LLKTNLSGRQ SPSFKLSLSS GTKTNLTSQS STTNLPGSPG SPGSPGSPGS
790 800 810 820 830
PGSVPKNTSQ TAAITTKGGL VGLVDYPDDD EDDDEDEDKE DTLPLSKKAK FDS