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 Q96C34

Entry ID Method Resolution Chain Position Source
AF-Q96C34-F1 Predicted AlphaFoldDB

495 variants for Q96C34

Variant ID(s) Position Change Description Diseaes Association Provenance
rs864622034
CA350489
RCV000206459
289 G>A Malignant tumor of prostate [ClinVar] Yes ClinGen
ClinVar
Ensembl
dbSNP
rs562961994
CA8588515
3 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs945576436
CA290809288
3 A>V No ClinGen
TOPMed
gnomAD
CA8588516
rs17853899
4 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
VAR_031760
rs17853899
CA290809293
4 V>I No ClinGen
UniProt
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs372920205
CA290809301
5 E>* No ClinGen
ESP
TOPMed
gnomAD
CA8588517
rs746367589
5 E>V No ClinGen
ExAC
gnomAD
rs199576891
CA290809304
6 A>E No ClinGen
ExAC
TOPMed
gnomAD
CA8588518
rs770339301
6 A>T No ClinGen
ExAC
gnomAD
CA8588519
rs199576891
6 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs530398987
CA8588520
7 A>S No ClinGen
1000Genomes
ExAC
gnomAD
CA399662083
rs530398987
7 A>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1278647266
CA399662090
7 A>V No ClinGen
TOPMed
gnomAD
CA399662106
rs1187720915
8 A>T No ClinGen
TOPMed
CA8588521
rs764334670
8 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8588524
rs376633797
9 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1283184177
CA399662126
9 E>G No ClinGen
gnomAD
CA8588522
rs774457362
9 E>Q No ClinGen
ExAC
gnomAD
rs750311395
CA8588525
10 P>A No ClinGen
ExAC
gnomAD
rs201536677
CA8588526
10 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201536677
CA399662145
10 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201536677
CA8588527
10 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8588528
rs753362536
11 V>E No ClinGen
ExAC
gnomAD
rs1191597359
CA399662154
11 V>I No ClinGen
TOPMed
gnomAD
CA290809340
rs1049018389
12 T>M No ClinGen
gnomAD
CA8588529
rs754479522
13 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1328031750
CA399662231
16 A>D No ClinGen
gnomAD
rs1567727400
CA399662226
16 A>T No ClinGen
Ensembl
CA8588531
rs752347491
17 V>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 20 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8588533
rs781518919
23 D>N No ClinGen
ExAC
gnomAD
rs1037379804
CA290809375
24 E>K No ClinGen
gnomAD
rs746277478
CA8588536
25 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA399662355
rs1348131839
25 E>G No ClinGen
gnomAD
CA399662346
rs1173468563
25 E>K No ClinGen
TOPMed
CA399662365
rs1567727443
26 E>K No ClinGen
Ensembl
rs1003348614
CA290809391
27 E>K No ClinGen
TOPMed
rs749337848
CA8588538
28 E>K No ClinGen
ExAC
gnomAD
CA399662414
rs1211265169
28 E>V No ClinGen
gnomAD
rs865978432
CA290809406
29 E>G No ClinGen
Ensembl
rs1033529538
CA290809399
29 E>K No ClinGen
TOPMed
gnomAD
TCGA novel 33 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768630844
CA8588539
33 P>S No ClinGen
ExAC
gnomAD
rs774568055
CA8588540
34 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA8588541
rs774568055
34 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA399662498
rs1471740481
34 P>S No ClinGen
TOPMed
gnomAD
CA399662496
rs1471740481
34 P>T No ClinGen
TOPMed
gnomAD
CA399662510
rs1461038593
35 C>R No ClinGen
TOPMed
gnomAD
rs773119716
CA8588543
36 E>K No ClinGen
ExAC
gnomAD
rs1317288111
CA399662579
39 R>P No ClinGen
TOPMed
CA8588544
rs369316147
39 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8588545
rs766304000
41 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1342244925
CA399662633
42 P>S No ClinGen
gnomAD
rs1334282946
CA399662644
43 V>L No ClinGen
TOPMed
gnomAD
rs1334282946
CA399662643
43 V>M No ClinGen
TOPMed
gnomAD
CA399662668
rs1333678635
44 G>A No ClinGen
gnomAD
rs1333678635
CA399662665
44 G>E No ClinGen
gnomAD
CA8588547
rs759031445
44 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA399662662
rs759031445
44 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs752259638
CA8588549
46 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA399662742
rs1195097040
49 A>D No ClinGen
gnomAD
CA8588551
rs777439485
51 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs750745524
CA8588552
52 G>E No ClinGen
ExAC
gnomAD
rs1445196200
CA399662801
54 T>A No ClinGen
TOPMed
CA399662806
rs1353113393
54 T>I No ClinGen
TOPMed
gnomAD
CA399662857
rs1474982417
57 L>F No ClinGen
gnomAD
rs144065038
CA8588553
60 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs144065038
CA399662914
60 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399662916
rs1459016017
61 T>A No ClinGen
TOPMed
rs1374810891
CA399662924
61 T>R No ClinGen
gnomAD
rs1167915605
CA399662935
62 A>V No ClinGen
gnomAD
rs1417066993
CA399662941
63 E>K No ClinGen
gnomAD
CA399662980
rs1354460517
64 E>D No ClinGen
gnomAD
CA399662966
rs1313838094
64 E>Q No ClinGen
TOPMed
gnomAD
rs1393880124
CA399662990
65 P>T No ClinGen
TOPMed
gnomAD
CA290809518
rs1043060947
66 G>S No ClinGen
TOPMed
rs1381929739
CA399663016
67 A>T No ClinGen
TOPMed
CA399663026
rs1297116664
67 A>V No ClinGen
gnomAD
CA8588554
rs28584166
68 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8588555
rs749764412
69 P>L No ClinGen
ExAC
gnomAD
CA399663069
rs1249601042
70 G>A No ClinGen
TOPMed
gnomAD
rs1249601042
CA399663067
70 G>D No ClinGen
TOPMed
gnomAD
rs974858698
CA290809538
72 P>R No ClinGen
Ensembl
CA399663110
rs1597749619
73 P>R No ClinGen
Ensembl
CA399663115
rs1485477871
74 D>N No ClinGen
gnomAD
CA399663121
rs1485477871
74 D>Y No ClinGen
gnomAD
rs1264118777
CA399663160
76 P>L No ClinGen
gnomAD
CA399663183
rs1192535259
78 R>Q No ClinGen
gnomAD
CA399663224
rs1236147947
81 R>L No ClinGen
gnomAD
CA399663258
rs1244323715
84 R>Q No ClinGen
TOPMed
CA399663292
rs1317807094
87 R>W No ClinGen
TOPMed
CA399663297
rs1437080213
88 R>W No ClinGen
TOPMed
gnomAD
rs1385431323
CA399663352
91 D>E No ClinGen
TOPMed
gnomAD
rs900259583
CA290809558
92 S>W No ClinGen
TOPMed
CA399663447
rs1464234215
98 S>F No ClinGen
gnomAD
CA399663586
rs1373132698
107 R>C No ClinGen
gnomAD
CA399663611
rs1234862261
109 R>P No ClinGen
gnomAD
rs1395545589
CA399663621
110 Q>* No ClinGen
TOPMed
CA399663640
rs1302423305
111 V>M No ClinGen
gnomAD
rs1217663502
CA399663655
112 V>L No ClinGen
gnomAD
rs1200917007
CA399663672
113 R>G No ClinGen
TOPMed
rs1200917007
CA399663670
113 R>S No ClinGen
TOPMed
CA399663685
rs1486300295
CA399663682
114 G>R No ClinGen
gnomAD
CA399663710
rs1246212268
115 A>E No ClinGen
gnomAD
rs773602396
CA8588560
115 A>T No ClinGen
ExAC
gnomAD
rs1246212268
CA399663705
115 A>V No ClinGen
gnomAD
rs1431432164
CA399663725
116 P>L No ClinGen
TOPMed
rs1455976794
CA399663738
117 A>E No ClinGen
gnomAD
CA399663769
rs1395004204
119 Q>* No ClinGen
gnomAD
rs760501540
CA8588561
120 Q>H No ClinGen
ExAC
gnomAD
CA399663789
rs1449904351
120 Q>R No ClinGen
gnomAD
CA290809584
rs550864158
121 R>G No ClinGen
1000Genomes
CA399663805
rs770648532
121 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8588562
rs770648532
121 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1345458782
CA399663815
122 L>F No ClinGen
gnomAD
CA399663828
rs1452550054
123 L>P No ClinGen
gnomAD
rs1452550054
CA399663830
123 L>Q No ClinGen
gnomAD
CA399663835
rs1441002706
124 R>Q No ClinGen
gnomAD
rs1395954253
CA399663832
124 R>W No ClinGen
gnomAD
CA399663841
rs1302653478
125 E>K No ClinGen
gnomAD
CA399663842
rs1302653478
125 E>Q No ClinGen
gnomAD
TCGA novel 125 E>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1376358453
CA399663862
126 L>V No ClinGen
gnomAD
rs1488721988
CA399663884
127 E>G No ClinGen
TOPMed
rs759373874
CA8588564
130 A>T No ClinGen
ExAC
gnomAD
rs765265688
CA8588565
132 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA399664073
rs1487772251
138 L>P No ClinGen
gnomAD
CA8588568
rs552222
138 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs1010650507
CA290809648
141 E>K No ClinGen
Ensembl
rs1418156446
CA399664131
142 G>R No ClinGen
gnomAD
rs751226206
CA8588570
143 P>L No ClinGen
ExAC
gnomAD
rs766648925
CA8588572
145 D>N No ClinGen
ExAC
gnomAD
TCGA novel 145 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 146 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399664217
rs1324600452
147 A>S No ClinGen
gnomAD
CA399664224
rs1348085641
147 A>V No ClinGen
gnomAD
CA399664228
rs1597750268
148 S>G No ClinGen
Ensembl
rs754286789
CA8588573
150 E>A No ClinGen
ExAC
TOPMed
gnomAD
CA399664293
rs1243392119
151 G>D No ClinGen
gnomAD
CA399664307
rs1372256970
152 D>Y No ClinGen
gnomAD
rs1286753903
CA399664332
153 G>E No ClinGen
gnomAD
rs1234017320
CA399664341
154 L>M No ClinGen
gnomAD
rs1289185157
CA399664352
155 P>S No ClinGen
gnomAD
CA8588575
rs755420359
156 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA399664370
rs1320463144
156 G>R No ClinGen
gnomAD
CA399664396
rs1259233124
157 D>E No ClinGen
TOPMed
gnomAD
CA399664392
rs1180444666
157 D>G No ClinGen
gnomAD
rs779605527
CA8588576
157 D>H No ClinGen
ExAC
gnomAD
CA399664382
rs779605527
157 D>N No ClinGen
ExAC
gnomAD
CA290809697
rs781273982
160 W>* No ClinGen
TOPMed
gnomAD
CA8588580
rs747204117
160 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs1708875
CA8588579
160 W>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399664430
rs747204117
160 W>L No ClinGen
ExAC
TOPMed
gnomAD
VAR_031761
CA8588578
rs1708875
160 W>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA399664452
rs1478201702
162 R>G No ClinGen
TOPMed
rs771239383
CA8588581
162 R>Q No ClinGen
ExAC
CA8588582
rs776264058
163 G>S No ClinGen
ExAC
gnomAD
rs1191773713
CA399664474
163 G>V No ClinGen
TOPMed
CA290809725
rs760923216
165 D>E No ClinGen
TOPMed
rs1357634094
CA399664509
166 Q>* No ClinGen
gnomAD
CA399666513
rs1567730964
169 Q>E No ClinGen
Ensembl
TCGA novel 169 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567730974
CA399666532
171 K>R No ClinGen
Ensembl
CA8588600
rs781505914
172 Q>R No ClinGen
ExAC
gnomAD
CA399666558
CA399666559
rs369497685
173 E>D No ClinGen
ESP
TOPMed
gnomAD
CA8588601
rs745600074
173 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA399666555
rs1432982610
173 E>V No ClinGen
gnomAD
rs769587764
CA8588602
174 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs34886583
COSM1383487
CA8588603
174 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769587764
CA399666561
174 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA399666576
rs1273398453
175 L>Q No ClinGen
gnomAD
rs1567731001
CA399666615
178 Q>* No ClinGen
Ensembl
rs377394528
CA8588604
182 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377394528
CA290812863
182 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290812868
rs200463952
182 Q>R No ClinGen
1000Genomes
CA290812872
rs766280856
186 I>V No ClinGen
TOPMed
gnomAD
CA8588605
rs768638303
187 L>V No ClinGen
ExAC
gnomAD
CA8588608
rs370774883
190 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs772942848
CA8588609
195 D>N No ClinGen
ExAC
gnomAD
CA8588611
rs765705110
198 T>M No ClinGen
ExAC
gnomAD
rs1382829140
CA399666911
204 G>S No ClinGen
Ensembl
rs763528529
CA8588613
205 S>N No ClinGen
ExAC
gnomAD
CA399666957
rs1597757073
207 D>A No ClinGen
Ensembl
rs199867848
CA8588614
208 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 210 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399667011
rs1322000932
211 Q>R No ClinGen
gnomAD
CA8588617
rs371790855
213 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1287387316
CA399667045
214 V>L No ClinGen
gnomAD
CA8588619
rs756395019
219 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs750660231
CA8588618
219 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1272286639
CA399667268
220 V>L No ClinGen
TOPMed
CA399667299
rs1357171445
222 I>M No ClinGen
TOPMed
CA8588634
rs767630340
223 D>G No ClinGen
ExAC
gnomAD
rs1190246248
CA399667302
223 D>N No ClinGen
gnomAD
TCGA novel 223 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8588635
rs750524899
225 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs1375318685
CA399667350
227 K>N No ClinGen
gnomAD
rs368796436
CA8588636
227 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1382423338
CA399667385
230 D>E No ClinGen
TOPMed
CA8588637
rs780295121
230 D>N No ClinGen
ExAC
gnomAD
rs902124755
CA290813793
232 N>H No ClinGen
TOPMed
CA8588638
rs753592981
232 N>S No ClinGen
ExAC
gnomAD
rs996805079
CA290813805
234 N>I No ClinGen
TOPMed
CA290813807
rs55637973
236 D>G No ClinGen
Ensembl
rs1353232384
CA399667447
236 D>N No ClinGen
TOPMed
rs546662271
CA8588639
238 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399667477
rs1375862340
238 S>T No ClinGen
gnomAD
CA399667496
rs1405391230
240 L>V No ClinGen
TOPMed
CA399667510
rs1415367575
241 S>C No ClinGen
TOPMed
CA399667538
rs1393831220
244 E>K No ClinGen
gnomAD
CA8588640
rs778661306
246 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8588641
rs748123180
246 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA8588642
rs757868579
247 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs375224265
CA8588643
247 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs149556177
CA8588645
248 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371936857
CA8588646
248 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371936857
CA290813832
248 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1452185201
CA399667588
249 V>L No ClinGen
TOPMed
rs749603489
CA8588647
250 D>G No ClinGen
ExAC
gnomAD
rs769067964
CA399667613
251 A>G No ClinGen
ExAC
gnomAD
CA8588648
rs769067964
251 A>V No ClinGen
ExAC
gnomAD
rs774644242
CA8588649
254 A>G No ClinGen
ExAC
gnomAD
TCGA novel 254 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399667637
rs1292136662
255 Q>E No ClinGen
TOPMed
rs1188562656
CA399667640
255 Q>R No ClinGen
gnomAD
rs762368564
CA399667650
256 I>M No ClinGen
ExAC
TOPMed
gnomAD
rs1243950057
CA399667648
256 I>T No ClinGen
TOPMed
CA399667654
rs1279444210
257 V>A No ClinGen
TOPMed
rs202076807
CA8588651
257 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs1177200803
CA399667656
258 N>H No ClinGen
gnomAD
rs773245859
CA8588652
258 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA399667668
rs1464183022
259 P>A No ClinGen
gnomAD
rs760776472
CA8588653
261 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs760776472
CA399667686
261 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA8588654
rs568593311
261 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs568593311
CA399667689
261 R>P No ClinGen
1000Genomes
ExAC
gnomAD
rs961750871
CA290813913
263 K>R No ClinGen
TOPMed
gnomAD
rs1423524841
CA399667729
265 Q>R No ClinGen
TOPMed
rs1597758635
CA399667766
268 E>D No ClinGen
Ensembl
rs1417043439
CA399667809
272 T>I No ClinGen
TOPMed
rs1597758650
CA399667815
273 Q>E No ClinGen
Ensembl
TCGA novel 275 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399667840
rs1406986490
275 R>G No ClinGen
TOPMed
CA399667850
rs1311841469
276 D>H No ClinGen
gnomAD
rs375923988
CA8588660
277 L>F No ClinGen
ESP
ExAC
gnomAD
TCGA novel 279 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290813944
rs986025728
279 M>K No ClinGen
Ensembl
rs376014187
CA8588661
282 N>S No ClinGen
ExAC
gnomAD
CA8588662
rs750828455
283 F>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 284 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1472033832
CA399669420
287 E>K No ClinGen
gnomAD
CA399669460
rs1339573645
288 V>A No ClinGen
TOPMed
gnomAD
rs146074807
CA8588682
288 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8588681
rs146074807
288 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8588684
rs755761147
290 S>G Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA399669510
rs1164072533
290 S>N No ClinGen
gnomAD
rs1166896440
COSM561092
CA399669573
293 Q>R lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA8588686
rs756553386
294 T>I No ClinGen
ExAC
gnomAD
CA399669611
rs1426225571
295 G>D No ClinGen
Ensembl
rs529320647
CA8588687
296 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs772338809
CA8588688
CA8588689
297 G>R No ClinGen
ExAC
gnomAD
rs747514103
CA8588690
298 H>Y No ClinGen
ExAC
gnomAD
rs771489843
CA8588691
300 E>Q No ClinGen
ExAC
gnomAD
CA8588692
rs776674954
301 C>S No ClinGen
ExAC
gnomAD
rs1289848937
CA399669790
303 A>G No ClinGen
TOPMed
gnomAD
rs1289848937
CA399669788
303 A>V No ClinGen
TOPMed
gnomAD
CA8588694
rs375924857
304 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399669813
rs1206579673
304 G>V No ClinGen
TOPMed
CA8588695
rs775585211
307 T>I No ClinGen
ExAC
gnomAD
CA399669934
rs1482526966
310 G>S No ClinGen
gnomAD
CA399669996
rs1202671144
312 S>R No ClinGen
gnomAD
CA399670031
rs1567732349
315 G>R No ClinGen
Ensembl
rs763974387
CA399670077
317 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs763974387
CA8588697
317 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA8588698
rs200178797
319 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1430181673
CA399670171
322 G>E No ClinGen
gnomAD
CA399670176
rs1244176530
323 N>D No ClinGen
TOPMed
CA399670188
rs1168998443
324 S>G No ClinGen
TOPMed
gnomAD
CA8588717
rs761730621
330 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1330674284
CA399670442
331 V>M No ClinGen
TOPMed
gnomAD
rs1384276302
CA399670469
332 K>E No ClinGen
gnomAD
CA290818775
rs553638883
334 V>A No ClinGen
1000Genomes
gnomAD
CA399670538
rs572946898
335 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8588719
rs572946898
335 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8588718
rs199952607
COSM1581617
335 R>W Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1315463552
CA399670564
336 E>D No ClinGen
TOPMed
CA8588720
rs760167480
336 E>K No ClinGen
ExAC
gnomAD
CA8588721
rs765805859
337 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 339 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1597759839
CA399670640
340 H>P No ClinGen
Ensembl
rs1465576622
CA399670684
341 L>R No ClinGen
TOPMed
rs757628851
CA8588726
342 M>K No ClinGen
ExAC
TOPMed
gnomAD
CA399670711
rs200561980
343 R>G No ClinGen
TOPMed
gnomAD
CA399670718
rs374188538
343 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8588727
rs374188538
343 R>Q Variant assessed as Somatic; 4.635e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA290818799
rs200561980
343 R>W No ClinGen
TOPMed
gnomAD
rs746353875
CA399670726
344 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8588728
rs746353875
344 R>G No ClinGen
ExAC
gnomAD
CA290818819
COSM561091
rs756700931
345 A>S lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8588729
rs756700931
345 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA8588730
rs779974943
345 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA399670792
rs1228503975
347 A>D No ClinGen
gnomAD
CA399670773
rs1351915551
347 A>S No ClinGen
gnomAD
CA399670814
rs774736859
348 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA8588733
rs774736859
348 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1211636291
CA399670860
350 Q>H No ClinGen
gnomAD
rs747894928
CA8588734
352 F>L No ClinGen
ExAC
gnomAD
CA8588735
rs771998451
353 A>P No ClinGen
ExAC
gnomAD
CA8588737
rs760518488
355 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA290818851
rs572766174
356 Q>* No ClinGen
Ensembl
rs759857691
CA290818854
358 G>A No ClinGen
Ensembl
rs867685651
CA290818857
360 A>V No ClinGen
Ensembl
rs1487230204
CA399671150
363 Q>E No ClinGen
TOPMed
gnomAD
TCGA novel 363 Q>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399671175
rs1567732682
364 I>F No ClinGen
Ensembl
rs1340979240
CA399671188
364 I>M No ClinGen
TOPMed
CA8588738
rs377624220
366 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399671264
rs1183008541
368 L>P No ClinGen
gnomAD
CA399671258
rs1247837882
368 L>V No ClinGen
TOPMed
CA290818860
rs998085368
369 W>* No ClinGen
TOPMed
rs759081997
CA8588740
370 Q>H No ClinGen
ExAC
gnomAD
rs1165566728
CA399671447
377 D>Y No ClinGen
gnomAD
CA8588741
rs764807787
378 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA8588742
rs752347435
380 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA399671542
rs1321942859
383 K>N No ClinGen
TOPMed
gnomAD
rs1597760044
CA399671581
386 E>G No ClinGen
Ensembl
rs61995866
CA8588743
386 E>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1597760056
CA399671596
387 V>G No ClinGen
Ensembl
rs767757645
CA8588744
387 V>M No ClinGen
ExAC
gnomAD
rs1597760064
CA399671607
388 S>A No ClinGen
Ensembl
CA399671627
rs1597760077
389 V>G No ClinGen
Ensembl
CA8588745
rs544350931
392 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs780641883
CA8588747
396 A>T No ClinGen
ExAC
gnomAD
VAR_031762
rs17857183
CA290818897
397 L>M No ClinGen
UniProt
Ensembl
dbSNP
CA8588748
rs749340594
397 L>S No ClinGen
ExAC
gnomAD
rs1276442771
CA399671777
399 Q>E No ClinGen
gnomAD
rs1567732870
CA399671790
399 Q>H No ClinGen
Ensembl
CA8588751
rs779218299
401 P>L No ClinGen
ExAC
gnomAD
CA399671842
rs1251340523
402 H>P No ClinGen
gnomAD
CA8588752
rs748365795
403 D>G No ClinGen
ExAC
CA399671919
rs1597760154
407 T>P No ClinGen
Ensembl
CA399671958
rs1164483300
409 A>V No ClinGen
TOPMed
rs746867708
CA8588756
413 D>V No ClinGen
ExAC
CA399672050
rs1597760182
416 L>P No ClinGen
Ensembl
rs770721701
CA8588757
418 G>C No ClinGen
ExAC
gnomAD
rs776639410
CA8588758
418 G>D No ClinGen
ExAC
gnomAD
rs1307080888
CA399672096
419 K>M No ClinGen
gnomAD
CA399672126
rs1383791435
421 E>K No ClinGen
TOPMed
CA8588759
rs376046963
423 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376046963
CA399672158
423 T>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1016355447
CA290818938
423 T>S No ClinGen
TOPMed
TCGA novel 424 M>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290818939
rs541380741
424 M>V No ClinGen
TOPMed
gnomAD
rs1242438968
CA399672229
427 R>Q No ClinGen
gnomAD
rs764717095
CA8588760
427 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs367817542
CA8588762
431 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1274236668
CA399672307
433 A>T No ClinGen
TOPMed
gnomAD
rs761132618
CA8588765
434 V>M No ClinGen
ExAC
gnomAD
rs766728617
CA8588766
436 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA399672354
rs61995864
437 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399672394
rs1597760325
440 H>P No ClinGen
Ensembl
rs758523797
CA8588771
444 A>V No ClinGen
ExAC
gnomAD
CA8588773
rs746737893
447 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs770777568
CA8588774
449 M>I No ClinGen
ExAC
gnomAD
rs1567733152
CA399672547
452 V>I No ClinGen
Ensembl
rs993120103
CA290818981
453 M>L No ClinGen
TOPMed
gnomAD
CA290818987
rs368096797
453 M>T No ClinGen
ESP
TOPMed
rs993120103
CA399672556
453 M>V No ClinGen
TOPMed
gnomAD
CA8588775
rs781026704
454 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8588776
rs745804067
455 P>S No ClinGen
ExAC
gnomAD
rs774960270
CA399672586
456 I>L No ClinGen
ExAC
gnomAD
rs774960270
CA8588778
456 I>V No ClinGen
ExAC
gnomAD
rs200110770
CA290818995
458 C>G No ClinGen
Ensembl
CA399672641
rs1256797635
461 P>S No ClinGen
gnomAD
rs1394614106
CA399672649
462 A>T No ClinGen
TOPMed
gnomAD
rs745626505
CA8588781
465 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA290819023
rs200042329
467 P>S No ClinGen
gnomAD
rs760891071
CA8588782
468 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA8588784
rs775175952
470 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs769581002
CA8588783
470 M>V No ClinGen
ExAC
CA399672739
rs1567733237
471 H>D No ClinGen
Ensembl
rs760086639
CA8588785
472 P>L No ClinGen
ExAC
gnomAD
CA399672815
rs1456586259
477 V>I No ClinGen
gnomAD
rs1286904779
CA399672833
478 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 479 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 479 Y>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399672851
rs1369537450
480 Y>D No ClinGen
gnomAD
rs140037579
CA8588789
481 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370262164
CA399672905
484 N>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8588792
rs780936816
485 G>S No ClinGen
ExAC
gnomAD
rs745714064
CA8588793
485 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA8588794
rs769671401
486 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs779998361
CA8588795
486 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA399672942
rs1489697525
488 Y>C No ClinGen
TOPMed
gnomAD
CA8588797
COSM1224394
rs768225556
489 V>A large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA399672949
rs1266266425
489 V>M No ClinGen
gnomAD
rs773790878
CA8588798
492 P>S No ClinGen
ExAC
gnomAD
rs771660205
CA8588800
COSM284722
494 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8588799
rs761520902
494 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1156897611
CA399672998
496 L>V No ClinGen
gnomAD
CA399673007
rs1292684683
497 S>C No ClinGen
TOPMed
gnomAD
CA399673008
rs1292684683
497 S>F No ClinGen
TOPMed
gnomAD
CA399673004
rs1458250743
497 S>T No ClinGen
gnomAD
rs1448457413
CA399673020
499 S>F No ClinGen
TOPMed
CA8588803
rs765796687
501 A>T No ClinGen
ExAC
gnomAD
CA399673048
rs1290442380
504 V>I No ClinGen
gnomAD
CA8588804
rs776141526
505 T>A No ClinGen
ExAC
gnomAD
rs763431743
CA399673056
505 T>K No ClinGen
ExAC
TOPMed
gnomAD
CA8588805
rs763431743
505 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA399673057
rs763431743
505 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 506 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767751816
CA8588809
507 G>D No ClinGen
ExAC
gnomAD
rs145831322
CA8588808
507 G>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs145831322
CA8588807
507 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1420922726
CA399673068
508 T>A No ClinGen
TOPMed
gnomAD
rs372331738
CA290819119
508 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372331738
CA8588810
508 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399673071
rs1597760905
509 V>I No ClinGen
Ensembl
rs74586760
CA8588811
513 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8588815
rs527942295
516 L>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs527942295
CA8588813
516 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8588817
rs747658188
517 L>V No ClinGen
ExAC
gnomAD
CA8588818
rs773027462
519 A>T No ClinGen
ExAC
gnomAD
rs746163891
CA8588819
520 I>L No ClinGen
ExAC
gnomAD
rs770273376
CA8588820
522 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs889665334
CA290819189
523 V>L No ClinGen
TOPMed
gnomAD
CA399673158
rs889665334
523 V>M No ClinGen
TOPMed
gnomAD
rs768120712
CA399673178
526 E>G No ClinGen
ExAC
gnomAD
CA8588821
rs768120712
526 E>V No ClinGen
ExAC
gnomAD
CA290819202
rs1007559890
527 H>R No ClinGen
TOPMed
rs764559984
CA8588823
528 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA399673192
rs1597761070
528 D>G No ClinGen
Ensembl
rs1441602801
CA399673188
528 D>H No ClinGen
gnomAD
CA8588824
rs774442115
531 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs761831894
CA8588825
COSM1679849
532 R>C Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767660129
CA8588826
532 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA399673218
rs767660129
532 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs756385044
CA8588828
533 S>G No ClinGen
ExAC
TOPMed
gnomAD
rs766156837
CA8588829
534 A>T No ClinGen
ExAC
gnomAD
CA290819259
rs200217728
534 A>V No ClinGen
1000Genomes
rs754919339
CA8588831
536 S>* No ClinGen
ExAC
gnomAD
rs1196530419
CA399673241
536 S>A No ClinGen
TOPMed
rs1196530419
CA399673240
536 S>P No ClinGen
TOPMed
rs369376117
CA290819292
540 A>D No ClinGen
TOPMed
gnomAD
rs369376117
CA290819275
540 A>V No ClinGen
TOPMed
gnomAD
CA399673272
rs1241179847
541 L>V No ClinGen
gnomAD
TCGA novel 542 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1168943624
CA399673280
542 V>L No ClinGen
gnomAD
CA8588834
rs757983154
544 M>I No ClinGen
ExAC
gnomAD
CA8588835
rs375833434
546 L>M No ClinGen
ESP
ExAC
gnomAD
CA8588836
rs746659117
547 N>K No ClinGen
ExAC
gnomAD
rs770751462
CA8588837
550 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA8588838
rs147773660
550 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs141180839
CA8588839
553 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8588840
rs769168134
554 W>C No ClinGen
ExAC
gnomAD
CA399673358
rs1437755576
554 W>L No ClinGen
gnomAD
rs774726247
CA8588841
555 V>L No ClinGen
ExAC
gnomAD
rs1597761325
CA399673369
556 N>T No ClinGen
Ensembl
rs960236076
CA290819401
557 L>V No ClinGen
TOPMed
rs1212515387
CA399673383
558 I>T No ClinGen
gnomAD
rs1597761366
CA399673408
562 G>R No ClinGen
Ensembl
CA399673414
rs1241228093
563 S>T No ClinGen
gnomAD
rs1188985115
CA399673420
564 L>V No ClinGen
gnomAD
TCGA novel 565 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8588844
rs773346413
565 I>V No ClinGen
ExAC
gnomAD
rs147605440
CA8588846
566 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs3744241
CA8588845
VAR_051328
566 E>K No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs753619133
CA8588847
567 P>T No ClinGen
ExAC
gnomAD
CA399673452
rs1472426223
569 Y>H No ClinGen
TOPMed
rs1175742781
CA399673460
570 Q>E No ClinGen
gnomAD
rs1233426866
CA399673522
578 T>A No ClinGen
TOPMed
rs759277627
CA8588848
578 T>I No ClinGen
ExAC
gnomAD
rs766700541
CA8588849
584 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA399673573
rs1204717759
585 N>K No ClinGen
TOPMed
CA399673576
rs1326274225
586 L>V No ClinGen
TOPMed
gnomAD
CA8588850
rs752585544
587 L>V No ClinGen
ExAC
gnomAD
CA8588851
rs375753180
589 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8588852
rs369271006
589 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs113828381
CA290819488
592 S>G No ClinGen
Ensembl
CA8588853
rs751166538
597 L>I No ClinGen
ExAC
gnomAD
CA399673660
rs1331136863
599 V>I No ClinGen
gnomAD
CA399673676
rs1283456748
601 L>Q No ClinGen
gnomAD
rs780741452
CA8588855
601 L>V No ClinGen
ExAC
gnomAD
CA399673679
rs1177799441
602 A>S No ClinGen
TOPMed
gnomAD
rs1597761597
CA399673683
603 V>M No ClinGen
Ensembl
CA8588856
rs749602274
604 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8588857
rs768916891
604 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1248696783
CA399673695
605 Q>* No ClinGen
gnomAD
rs1405168306
CA399673700
605 Q>H No ClinGen
TOPMed
CA399673724
rs1427372248
609 I>F No ClinGen
TOPMed
gnomAD
CA399673725
rs1427372248
609 I>V No ClinGen
TOPMed
gnomAD
CA399673750
rs1179194696
612 A>G No ClinGen
TOPMed
gnomAD
CA8588860
rs758033721
613 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA399673757
rs1430491505
613 F>L No ClinGen
gnomAD
rs1159705828
CA399673759
614 F>R No ClinGen
gnomAD

No associated diseases with Q96C34

1 regional properties for Q96C34

Type Name Position InterPro Accession
domain RUN domain 421 - 602 IPR004012

Functions

Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

No GO annotations of cellular component

Name Definition
No GO annotations for cellular component

1 GO annotations of molecular function

Name Definition
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.

2 GO annotations of biological process

Name Definition
activation of GTPase activity Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
in utero embryonic development The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAAVEAAAEP VTVVAAVGPK AKDEEEEEEE PLPPCEAVRW APVGAVAEAR PGATAFLEEA
70 80 90 100 110 120
TAEEPGAAPG SPPDSPGRTL RRLRAERRRL DSALLALSSH FAQVQFRLRQ VVRGAPAEQQ
130 140 150 160 170 180
RLLRELEDFA FRGCPHVLGY EGPGDPASDE GDGLPGDRPW LRGEDQSEQE KQERLETQRE
190 200 210 220 230 240
KQKELILQLK TQLDDLETFA YQEGSYDSLP QSVVLERQRV IIDELIKKLD MNLNEDISSL
250 260 270 280 290 300
STEELRQRVD AAVAQIVNPA RVKEQLVEQL KTQIRDLEMF INFIQDEVGS PLQTGGGHCE
310 320 330 340 350 360
CKAGGKTGNG CSRTGSSRTP PGNSKTKAED VKKVRETGLH LMRRALAVLQ IFAVSQFGCA
370 380 390 400 410 420
TGQIPPTLWQ RVQADRDYSP LLKRLEVSVD RVKQLALRQQ PHDHVITSAN LQDLSLGGKD
430 440 450 460 470 480
ELTMAVRKEL TVAVRDLLAH GLYASSPGMS LVMAPIACLL PAFSSAPEAM HPWELFVKYY
490 500 510 520 530 540
HAKNGRAYVE SPARKLSQSF ALPVTGGTVV TPKQSLLTAI HMVLTEHDPF KRSADSELKA
550 560 570 580 590 600
LVCMALNEQR LVSWVNLICK SGSLIEPHYQ PWSYMAHTGF ESALNLLSRL SSLKFSLPVD
610
LAVRQLKNIK DAF