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 Q8WUA7

Entry ID Method Resolution Chain Position Source
2QFZ X-ray 210 A A/B 191-517 PDB
AF-Q8WUA7-F1 Predicted AlphaFoldDB

425 variants for Q8WUA7

Variant ID(s) Position Change Description Diseaes Association Provenance
CA325202128
rs940047837
3 S>T No ClinGen
TOPMed
gnomAD
rs755020822
CA10297113
5 G>R No ClinGen
ExAC
gnomAD
rs1472328052
CA411956624
6 A>T No ClinGen
gnomAD
CA325202139
rs1037270375
10 F>L No ClinGen
TOPMed
CA325202141
rs972577646
13 R>C No ClinGen
TOPMed
CA411956708
rs972577646
13 R>G No ClinGen
TOPMed
CA325202147
rs906815129
14 S>R No ClinGen
TOPMed
gnomAD
CA411956746
rs1157852368
16 S>I No ClinGen
gnomAD
CA10297115
rs752916321
17 K>E No ClinGen
ExAC
gnomAD
CA10297116
rs200768437
17 K>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411956792
rs1375724995
20 G>A No ClinGen
TOPMed
gnomAD
rs1375724995
CA411956791
20 G>D No ClinGen
TOPMed
gnomAD
rs1280365660
CA411956784
20 G>S No ClinGen
gnomAD
rs1601880923
CA411959347
23 Q>K No ClinGen
Ensembl
CA411959357
rs1394023541
24 H>Y No ClinGen
gnomAD
rs759936733
CA411959364
25 V>L No ClinGen
TOPMed
CA325214934
rs759936733
25 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA10297143
rs569878882
26 Y>F No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 26 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769506883
CA10297144
30 H>N No ClinGen
ExAC
gnomAD
rs749629711
CA10297148
30 H>Q No ClinGen
ExAC
TOPMed
gnomAD
rs777340079
CA10297147
30 H>R No ClinGen
ExAC
CA411959407
rs1208677696
32 P>A No ClinGen
gnomAD
rs780242440
CA10297149
32 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs780242440
CA411959409
32 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs780242440
CA10297150
32 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1180424417
CA411959415
33 F>C No ClinGen
gnomAD
rs771822190 33 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
rs760828519
CA10297155
34 D>A No ClinGen
ExAC
gnomAD
rs760828519
CA10297154
34 D>V No ClinGen
ExAC
gnomAD
CA411959429
rs1161610885
35 P>L No ClinGen
TOPMed
rs1161610885
CA411959427
35 P>Q No ClinGen
TOPMed
CA10297156
rs754052601
36 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA411959432
rs754052601
36 L>Q No ClinGen
ExAC
TOPMed
gnomAD
CA411959430
rs1419972438
36 L>V No ClinGen
gnomAD
CA411959439
rs1293964953
37 L>F No ClinGen
gnomAD
rs146224636
CA10297158
38 H>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146224636
CA325214999
38 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411959454
rs1360754684
40 T>A No ClinGen
gnomAD
rs751292740
CA10297160
40 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs985127356
CA325215645
43 R>S No ClinGen
TOPMed
gnomAD
CA10297212
rs373533476
44 S>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10297214
rs755610660
45 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs370891201
CA325215668
46 A>V No ClinGen
ESP
TOPMed
CA411959592
rs1472299527
48 M>I No ClinGen
gnomAD
CA10297216
rs748273994
49 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA411959597
rs748273994
49 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs1182410627
CA411959596
49 P>S No ClinGen
TOPMed
gnomAD
CA10297219
rs373169605
50 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs139283566
CA10297220
50 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 51 T>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs760455392
CA10297222
52 P>L No ClinGen
ExAC
gnomAD
CA411959616
rs1447640878
53 V>E No ClinGen
gnomAD
CA10297223
rs188509845
53 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411959625
rs1289169185
54 K>N No ClinGen
gnomAD
rs1352439383
CA411959631
55 A>V No ClinGen
gnomAD
CA10297224
rs776373828
56 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs1287658736
CA411959637
56 K>R No ClinGen
gnomAD
rs761408273
CA10297225
57 R>S No ClinGen
ExAC
gnomAD
CA10297226
rs764610953
60 T>A No ClinGen
ExAC
gnomAD
rs749915646
CA10297227
65 E>D No ClinGen
ExAC
TOPMed
rs1044797288
CA325215714
65 E>G No ClinGen
TOPMed
CA411959715
rs1441607266
67 N>S No ClinGen
gnomAD
CA411959724
rs1324519181
68 T>I No ClinGen
TOPMed
CA411959733
rs1253443796
COSM3424243
70 D>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1481794938
CA411959754
72 W>C No ClinGen
gnomAD
rs142628893
CA411959764
74 A>S No ClinGen
ESP
TOPMed
gnomAD
rs142628893
CA325215733
74 A>T No ClinGen
ESP
TOPMed
gnomAD
CA10297230
rs151001225
76 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10297232
rs758848470
78 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA10297234
rs756616638
79 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs753108605
COSM3405723
CA10297233
79 D>N Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs375204935
CA325215759
84 M>T No ClinGen
ESP
TOPMed
CA411959829
rs1157899125
84 M>V No ClinGen
TOPMed
CA411959841
rs1438584179
85 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs771207642
CA10297237
86 A>P No ClinGen
ExAC
TOPMed
gnomAD
COSM1416917
CA411959842
rs771207642
86 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10297238
rs779037012
86 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1185514145
CA411959848
87 E>* No ClinGen
TOPMed
rs1339717338
CA411959852
87 E>D No ClinGen
gnomAD
CA411959856
rs1203967471
88 S>C No ClinGen
gnomAD
CA411959865
rs1452789652
89 L>P No ClinGen
gnomAD
CA10297242
rs17849460
92 E>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411959891
rs1213849893
93 V>A No ClinGen
TOPMed
rs769747383
CA10297243
93 V>L No ClinGen
ExAC
gnomAD
CA10297244
rs772925609
94 V>F No ClinGen
ExAC
gnomAD
CA411959893
rs772925609
94 V>I No ClinGen
ExAC
gnomAD
CA411959899
rs1319157328
95 M>V No ClinGen
TOPMed
CA10297245
rs141580250
97 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411959931
rs1167533607
99 N>S No ClinGen
gnomAD
rs1167533607
CA411959930
99 N>T No ClinGen
gnomAD
rs147698824
CA10297248
100 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297249
rs370656255
100 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10297251
rs539861629
103 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs778336837
COSM171051
CA10297252
103 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411959952
rs778336837
103 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs1299605071
CA411959954
104 N>D No ClinGen
TOPMed
gnomAD
rs1428177249
CA411959977
107 Q>* No ClinGen
TOPMed
CA10297254
rs373618433
108 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA10297253
rs556422849
108 R>W No ClinGen
1000Genomes
ExAC
gnomAD
rs746048534
CA411960002
111 R>G No ClinGen
ExAC
gnomAD
CA411960003
rs772304663
111 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA10297257
rs772304663
111 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs746048534
CA10297256
111 R>W No ClinGen
ExAC
gnomAD
CA411960009
rs1383310820
112 P>R No ClinGen
TOPMed
TCGA novel 112 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411960012
rs1189739239
113 T>A No ClinGen
TOPMed
gnomAD
rs146025212
RCV000957767
CA10297258
113 T>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs769624699
CA411960025
115 Q>L No ClinGen
ExAC
gnomAD
rs769624699
CA10297260
115 Q>R No ClinGen
ExAC
gnomAD
TCGA novel 118 P>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10297261
rs113311478
118 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411960063
rs1221318821
121 Q>R No ClinGen
TOPMed
rs971787175
CA325215884
122 Q>* No ClinGen
TOPMed
gnomAD
CA411960068
rs971787175
122 Q>E No ClinGen
TOPMed
gnomAD
rs1294609969
CA411960070
122 Q>R No ClinGen
TOPMed
CA10297262
rs762574245
123 K>N No ClinGen
ExAC
gnomAD
CA411960076
rs1393791806
123 K>Q No ClinGen
gnomAD
CA411960090
rs1386225397
125 R>T No ClinGen
gnomAD
rs1322410409
CA411960088
125 R>W No ClinGen
gnomAD
CA10297265
rs759162830
127 E>K No ClinGen
ExAC
gnomAD
CA411960108
rs767188708
128 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs767188708
CA10297266
128 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs189329763
CA10297268
130 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10297267
rs189329763
130 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10297271
rs757358750
132 S>L No ClinGen
ExAC
gnomAD
rs750492932
CA10297273
133 P>L No ClinGen
ExAC
gnomAD
CA10297272
rs572606763
133 P>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA325215916
rs572606763
133 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
COSM1318756
rs112995262
CA10297274
134 P>A haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA411960139
rs201151937
134 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411960140
rs201151937
134 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10297276
rs201151937
134 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411960138
rs112995262
134 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs112995262
CA10297275
134 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297279
rs749281882
135 S>G No ClinGen
ExAC
gnomAD
CA411960143
rs1417281424
135 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA411960155
rs1386288578
136 G>D No ClinGen
gnomAD
rs748741270
CA10297280
136 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA411960152
rs1386288578
136 G>V No ClinGen
gnomAD
rs543478811
CA10297282
137 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1018052328
CA325215978
138 L>F No ClinGen
TOPMed
gnomAD
rs535972526
CA10297285
139 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10297284
rs775148519
139 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA325215990
rs998925166
141 V>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA411960204
rs998925166
141 V>G No ClinGen
gnomAD
CA411960217
rs1484416151
142 K>R No ClinGen
gnomAD
CA10297287
rs563554988
143 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1308707476
CA411960240
145 S>G No ClinGen
TOPMed
CA411960244
rs1483432891
145 S>T No ClinGen
gnomAD
CA10297289
rs765718678
147 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA10297290
rs375588486
149 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1343453173
CA411960296
150 S>F No ClinGen
TOPMed
CA325215997
rs867600460
151 C>F No ClinGen
gnomAD
CA411960307
rs867600460
151 C>Y No ClinGen
gnomAD
rs1464321405
CA411960326
153 A>T No ClinGen
gnomAD
CA10297309
rs762974977
155 S>I No ClinGen
ExAC
gnomAD
CA411960946
rs1271097186
156 A>D No ClinGen
gnomAD
rs1306997716
CA411960950
157 S>G No ClinGen
gnomAD
CA411960957
rs1267287718
158 D>N No ClinGen
gnomAD
CA411960970
rs1467115886
159 A>V No ClinGen
TOPMed
gnomAD
CA411960972
rs759900287
160 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA10297312
rs759900287
160 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA411960981
rs1569048123
161 P>L No ClinGen
Ensembl
CA10297313
rs547810602
162 L>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA10297315
rs561746997
168 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1424020889
CA411961028
169 P>S No ClinGen
gnomAD
TCGA novel 170 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA10297317
rs187687977
171 S>L No ClinGen
1000Genomes
ExAC
gnomAD
rs1325759617
CA411961047
172 A>S No ClinGen
gnomAD
rs1437638532
CA411961056
173 T>I No ClinGen
TOPMed
gnomAD
rs1389879381
CA411961053
173 T>S No ClinGen
gnomAD
CA10297320
rs746506768
174 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs141698918
CA411961064
175 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000965512
CA10297322
rs141698918
175 T>M No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs367864102
CA10297321
175 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773418910
CA10297325
176 L>V No ClinGen
ExAC
gnomAD
CA10297326
rs763567912
177 G>D No ClinGen
ExAC
gnomAD
CA411961078
rs1170571861
178 G>D No ClinGen
TOPMed
rs1170571861
CA411961080
178 G>V No ClinGen
TOPMed
CA10297327
rs146205023
179 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297328
rs146205023
179 T>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139101675
CA10297329
180 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA325217927
rs748132646
181 D>H No ClinGen
Ensembl
CA411961101
rs1175211637
182 P>R No ClinGen
TOPMed
rs1249565988
CA411961099
182 P>S No ClinGen
TOPMed
rs1415048979
CA411961108
183 S>N No ClinGen
gnomAD
rs1052520953
CA325217937
186 S>G No ClinGen
TOPMed
rs752916130
CA10297331
187 S>R No ClinGen
ExAC
gnomAD
CA10297332
rs761726540
189 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1233342682
CA411961148
190 L>M No ClinGen
TOPMed
rs149499645
CA10297335
191 S>R No ClinGen
ESP
ExAC
gnomAD
COSM1035211
rs1000073319
CA325217969
192 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs1350818408
CA411961182
195 A>T No ClinGen
gnomAD
CA411961187
rs1304770672
195 A>V No ClinGen
gnomAD
rs372774075
CA10297338
197 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411961194
rs1282803682
197 R>W No ClinGen
TOPMed
rs778261467
CA10297342
199 D>E No ClinGen
ExAC
gnomAD
CA10297341
rs747838862
199 D>H No ClinGen
ExAC
gnomAD
CA411961204
rs747838862
199 D>N No ClinGen
ExAC
gnomAD
rs747838862
CA10297340
199 D>Y No ClinGen
ExAC
gnomAD
rs1305325537
CA411961224
201 F>L No ClinGen
TOPMed
rs569400492
CA10297343
202 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs771476540
CA10297344
206 A>P No ClinGen
ExAC
gnomAD
CA325218023
rs958242168
206 A>V No ClinGen
TOPMed
gnomAD
CA10297346
rs538362760
207 G>S No ClinGen
1000Genomes
ExAC
gnomAD
CA411961264
rs1352515275
208 P>R No ClinGen
TOPMed
gnomAD
CA411961266
rs1601905353
209 N>H No ClinGen
Ensembl
CA411961271
rs1415335800
209 N>S No ClinGen
TOPMed
gnomAD
rs1175775807
CA411961279
210 T>R No ClinGen
gnomAD
CA10297362
rs749679165
216 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs777226130
CA10297361
216 R>W No ClinGen
ExAC
gnomAD
rs1408209617
CA411962506
219 S>R No ClinGen
gnomAD
CA325231757
rs916918749
219 S>T No ClinGen
TOPMed
TCGA novel 221 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1331664937
CA411962528
222 G>R No ClinGen
gnomAD
rs1301031154
CA411962546
224 P>L No ClinGen
gnomAD
CA10297367
rs775769635
227 V>A No ClinGen
ExAC
gnomAD
rs768924971
CA10297369
228 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs768924971
CA10297370
228 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1194794161
CA411962567
228 R>H No ClinGen
gnomAD
rs1395387798
CA411962578
230 M>K No ClinGen
TOPMed
CA10297371
rs144042293
230 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10297372
rs563360644
231 T>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA325231805
rs924343238
232 W>G No ClinGen
Ensembl
TCGA novel 233 K>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs529507386
CA325231809
234 L>V No ClinGen
1000Genomes
rs766583001
CA411962611
235 L>F No ClinGen
TOPMed
CA325231813
rs766583001
235 L>V No ClinGen
TOPMed
rs748255958
CA10297406
237 G>V No ClinGen
ExAC
gnomAD
rs770011457
CA10297408
238 Y>S No ClinGen
ExAC
gnomAD
rs201635788
CA10297411
241 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA10297412
rs775320809
242 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA411962683
rs1339531459
244 D>E No ClinGen
TOPMed
rs1227209780
CA411962679
244 D>Y No ClinGen
TOPMed
rs776069319
CA10297415
245 R>Q No ClinGen
ExAC
gnomAD
CA10297414
COSM1495259
rs142211618
245 R>W kidney [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA10297416
rs761339734
246 R>S No ClinGen
ExAC
gnomAD
rs1334367123
CA411962727
252 R>* No ClinGen
gnomAD
rs764993895
CA10297417
254 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA10297418
rs750046043
254 Q>R No ClinGen
ExAC
gnomAD
COSM258146
CA411962754
rs1350377357
255 K>N large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
TCGA novel 255 K>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA325225345
rs373848436
256 E>A No ClinGen
ESP
TOPMed
CA411962761
rs1208976578
256 E>D No ClinGen
gnomAD
CA411962767
rs1406559078
257 Y>F No ClinGen
TOPMed
rs199700764
CA10297420
260 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411962804
rs766900008
262 E>D No ClinGen
ExAC
gnomAD
TCGA novel 262 E>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs751940883
CA10297423
264 Y>C No ClinGen
ExAC
gnomAD
CA10297422
rs751940883
264 Y>F No ClinGen
ExAC
gnomAD
CA10297426
rs756141681
COSM1035213
266 D>N Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA10297419
rs778817994
267 S>F No ClinGen
ExAC
gnomAD
TCGA novel 269 N>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411962856
rs1484383950
270 D>N No ClinGen
gnomAD
rs779768621
CA10297430
COSM1416920
271 E>K Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA325225407
rs773727543
272 V>L No ClinGen
Ensembl
rs746812615
CA10297431
276 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1304694099
CA639667619
277 Y>* No ClinGen
gnomAD
CA411962913
rs1238578949
278 R>G No ClinGen
gnomAD
rs775351336
CA411963059
281 H>L No ClinGen
ExAC
TOPMed
gnomAD
CA10297461
rs775351336
281 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1021808630
CA325227547
282 I>V No ClinGen
TOPMed
gnomAD
rs763218275
CA325227566
285 P>L No ClinGen
Ensembl
rs761224095
CA10297463
COSM1535737
286 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs560814069
CA325227596
287 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
CA10297465
rs753916958
287 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA10297466
rs139839482
288 S>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1602353254
CA411963164
289 P>S No ClinGen
Ensembl
rs1325701498
CA411963179
290 E>G No ClinGen
gnomAD
rs375436361
CA10297467
291 A>V No ClinGen
ESP
ExAC
gnomAD
CA325227637
rs909453412
292 L>F No ClinGen
TOPMed
gnomAD
CA10297469
rs758517657
293 I>F No ClinGen
ExAC
gnomAD
TCGA novel 295 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 297 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1332635875
CA411963262
297 K>Q No ClinGen
gnomAD
rs147682361
CA411963295
299 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297471
rs147682361
299 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297473
rs777796856
300 E>K No ClinGen
ExAC
gnomAD
TCGA novel 303 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411963829
rs1380051001
305 I>T No ClinGen
gnomAD
CA325235741
rs371872564
305 I>V No ClinGen
Ensembl
rs1401216784
CA411963838
306 L>F No ClinGen
TOPMed
CA10297494
rs778539219
310 A>V No ClinGen
ExAC
gnomAD
CA411963897
rs1602447008
311 I>T No ClinGen
Ensembl
rs988342620
CA325235750
312 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs771756934
COSM189366
CA10297496
312 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs747395220
CA10297498
313 H>P No ClinGen
ExAC
gnomAD
CA10297499
rs768967302
314 P>S No ClinGen
ExAC
gnomAD
rs762431913
CA10297501
319 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10297502
rs770198561
320 Q>R No ClinGen
ExAC
gnomAD
CA411963983
rs1346541684
323 N>D No ClinGen
gnomAD
rs548444280
CA10297505
326 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs751794345
CA10297506
327 T>A No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 328 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759803136
CA411964027
CA10297507
329 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs369108625
CA10297509
COSM445140
334 I>V Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs9616149
CA325235773
335 C>G No ClinGen
Ensembl
rs1393561622
CA411964080
337 Y>C No ClinGen
gnomAD
rs953262044
CA325235777
337 Y>H No ClinGen
TOPMed
rs371300371
CA325235780
338 I>V No ClinGen
ESP
TOPMed
gnomAD
rs5769241
CA325235781
339 E>* No ClinGen
Ensembl
TCGA novel 339 E>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181280559
CA411962940
339 E>V No ClinGen
TOPMed
rs752146755
CA10297619
341 E>K No ClinGen
ExAC
gnomAD
rs149810185
CA10297620
342 E>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1276229877
CA411962977
344 D>E No ClinGen
TOPMed
CA10297621
rs767639714
345 T>M No ClinGen
ExAC
gnomAD
CA325241160
rs1026496872
345 T>P No ClinGen
Ensembl
CA411963001
rs1398286672
348 V>A No ClinGen
gnomAD
CA411962997
rs1403596097
348 V>I No ClinGen
TOPMed
gnomAD
CA411963007
rs1340206491
349 S>C No ClinGen
gnomAD
CA411963004
rs1332640033
349 S>P No ClinGen
gnomAD
rs199657694
CA10297625
350 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA10297627
rs367573498
351 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768703084
CA10297629
352 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA411963020
rs768703084
352 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10297632
rs148990656
353 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297631
rs148990656
353 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1378059107
CA411963041
354 E>D No ClinGen
TOPMed
TCGA novel 354 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411963039
rs1180259997
354 E>V No ClinGen
gnomAD
CA10297634
rs762481807
355 V>M No ClinGen
ExAC
gnomAD
CA411963072
rs1173777416
357 C>G No ClinGen
gnomAD
rs1378817673
CA411963081
357 C>W No ClinGen
gnomAD
CA411963074
rs1471596412
357 C>Y No ClinGen
TOPMed
CA411963108
rs1468061528
359 I>M No ClinGen
gnomAD
rs760099782
CA10297637
360 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10297640
rs760693157
362 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA325241232
rs775181541
363 T>S No ClinGen
Ensembl
CA411963182
rs1333784593
365 W>* No ClinGen
TOPMed
gnomAD
rs1333784593
CA411963184
365 W>S No ClinGen
TOPMed
gnomAD
rs764259105
CA411963201
366 C>F No ClinGen
ExAC
gnomAD
CA10297641
rs764259105
366 C>S No ClinGen
ExAC
gnomAD
rs1446257680
CA411963230
368 S>N No ClinGen
gnomAD
rs1253653736
CA411963276
372 D>N No ClinGen
TOPMed
CA10297674
rs546110825
377 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 383 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411963725
rs1007529328
387 M>L No ClinGen
TOPMed
gnomAD
rs1007529328
CA325250258
387 M>V No ClinGen
TOPMed
gnomAD
CA10297675
rs775814845
390 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA10297677
rs747575625
393 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs776778660
CA10297679
396 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA10297680
rs761744005
397 S>C No ClinGen
ExAC
gnomAD
CA10297682
rs773528818
398 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1485808665
CA411963872
COSM445141
398 R>W Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA10297683
rs763243690
399 I>L No ClinGen
ExAC
gnomAD
CA411963888
rs1164265829
399 I>T No ClinGen
gnomAD
CA411963882
rs763243690
399 I>V No ClinGen
ExAC
gnomAD
CA10297685
rs752533977
401 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA411963359
rs755258982
402 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA411963371
rs1603106605
404 H>R No ClinGen
Ensembl
CA10297715
rs373561956
405 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370812561
CA10297714
405 R>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411963385
rs778003136
407 L>M No ClinGen
ExAC
gnomAD
CA10297718
rs749322563
408 D>G No ClinGen
ExAC
TOPMed
gnomAD
CA10297719
rs771297442
409 Q>R No ClinGen
ExAC
gnomAD
CA10297721
COSM1035215
rs759769107
411 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA411963426
rs1413659053
413 R>G No ClinGen
gnomAD
rs1403973437
CA639677992
414 Y>* No ClinGen
TOPMed
gnomAD
CA10297724
rs776477061
414 Y>C No ClinGen
ExAC
TOPMed
gnomAD
CA10297725
rs145253414
418 A>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765094951
CA10297726
419 F>L No ClinGen
ExAC
gnomAD
rs1438074649
CA411963474
420 R>C No ClinGen
TOPMed
gnomAD
CA325241773
rs912846000
420 R>H No ClinGen
TOPMed
gnomAD
rs1197126354
CA411963518
426 L>Q No ClinGen
gnomAD
rs1603106960
CA411963522
427 M>V No ClinGen
Ensembl
rs765009698
CA325241784
429 E>D No ClinGen
Ensembl
CA411963559
rs1188023419
432 L>P No ClinGen
TOPMed
rs141677462
CA10297728
433 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA10297729
rs766052184
433 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10297730
rs751211147
436 I>F No ClinGen
ExAC
gnomAD
CA10297732
COSM580344
rs781476335
437 R>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA10297733
COSM1416921
rs753037531
437 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs756700338
CA10297734
439 W>C No ClinGen
ExAC
gnomAD
rs778372230
CA10297735
440 D>N No ClinGen
ExAC
gnomAD
rs1391057689
CA411963614
441 T>I No ClinGen
gnomAD
rs1208541843
CA411963609
441 T>P No ClinGen
TOPMed
CA411963615
rs1406722017
442 Y>H No ClinGen
gnomAD
CA10297761
rs768020083
446 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA411983679
rs1377904081
447 D>Y No ClinGen
gnomAD
CA325424192
rs138576280
448 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA411983692
rs1223364922
449 F>L No ClinGen
TOPMed
CA10297764
rs749289473
450 S>P No ClinGen
ExAC
gnomAD
CA411983707
rs1371362924
451 H>R No ClinGen
TOPMed
rs1335105181
CA411983704
451 H>Y No ClinGen
gnomAD
rs374905207
CA10297765
452 F>C No ClinGen
ESP
ExAC
gnomAD
rs1333990859
CA411983734
455 Y>H No ClinGen
gnomAD
rs367838104
CA10297769
456 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411983752
rs1445715849
457 C>Y No ClinGen
gnomAD
CA10297771
rs764607944
458 A>S No ClinGen
ExAC
gnomAD
CA411983760
rs1262223610
459 A>T No ClinGen
gnomAD
rs1457958074
CA411983767
460 F>L No ClinGen
gnomAD
rs1235843202
CA411983781
462 V>L No ClinGen
gnomAD
rs757846274
CA10297773
463 R>K No ClinGen
ExAC
gnomAD
CA411983793
rs1450202904
464 W>R No ClinGen
TOPMed
CA411983803
rs1198950585
465 R>K No ClinGen
TOPMed
gnomAD
CA411983822
COSM1308267
rs1259323519
467 E>D Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA325424239
rs989781767
469 L>I No ClinGen
Ensembl
TCGA novel 470 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA411983846
rs1405764252
471 E>G No ClinGen
gnomAD
CA411983843
rs542380822
471 E>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs542380822
CA10297774
471 E>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA411983855
rs1333549507
472 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 475 Q>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1306585811
CA411983366
476 E>Q No ClinGen
gnomAD
CA10297796
rs766540708
477 L>P No ClinGen
ExAC
gnomAD
rs755205214
CA10297798
478 L>P No ClinGen
ExAC
gnomAD
CA10297799
rs781343015
481 L>P No ClinGen
ExAC
gnomAD
CA10297801
rs373398596
488 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA411983488
rs1428146450
494 I>V No ClinGen
gnomAD
CA10297802
rs778546759
495 S>T No ClinGen
ExAC
gnomAD
rs746462660
CA10297806
500 E>K No ClinGen
ExAC
gnomAD
COSM189457
CA10297808
rs776386503
503 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1601770662
CA411983547
503 R>S No ClinGen
Ensembl
rs763586138
CA10297812
510 D>G No ClinGen
ExAC
gnomAD
CA10297811
rs773437557
510 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA411983598
rs1569483166
COSM3424245
511 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA10297815
rs759572384
512 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA10297817
rs752962513
513 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA10297818
rs376369955
514 H>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778833309
CA10297819
515 Y>C No ClinGen
ExAC
gnomAD
rs6008057
CA325467709
516 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs542359357
CA10297821
518 K>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1380954201
CA411983646
518 K>R No ClinGen
gnomAD

No associated diseases with Q8WUA7

1 regional properties for Q8WUA7

Type Name Position InterPro Accession
domain Rab-GAP-TBC domain 219 - 472 IPR000195

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

3 GO annotations of molecular function

Name Definition
14-3-3 protein binding Binding to a 14-3-3 protein. A 14-3-3 protein is any of a large family of approximately 30kDa acidic proteins which exist primarily as homo- and heterodimers within all eukaryotic cells, and have been implicated in the modulation of distinct biological processes by binding to specific phosphorylated sites on diverse target proteins, thereby forcing conformational changes or influencing interactions between their targets and other molecules. Each 14-3-3 protein sequence can be roughly divided into three sections: a divergent amino terminus, the conserved core region and a divergent carboxy-terminus. The conserved middle core region of the 14-3-3s encodes an amphipathic groove that forms the main functional domain, a cradle for interacting with client proteins.
GTPase activator activity Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
protein homodimerization activity Binding to an identical protein to form a homodimer.

1 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.

27 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8IZP1 TBC1D3 TBC1 domain family member 3 Homo sapiens (Human) PR
Q6IPX1 TBC1D3C TBC1 domain family member 3C Homo sapiens (Human) PR
B9A6J9 TBC1D3L TBC1 domain family member 3L Homo sapiens (Human) PR
A0A087WVF3 TBC1D3D TBC1 domain family member 3D Homo sapiens (Human) PR
A6NER0 TBC1D3F TBC1 domain family member 3F Homo sapiens (Human) PR
A0A087WXS9 TBC1D3I TBC1 domain family member 3I Homo sapiens (Human) PR
Q6DHY5 TBC1D3G TBC1 domain family member 3G Homo sapiens (Human) PR
A0A087X179 TBC1D3E TBC1 domain family member 3E Homo sapiens (Human) PR
A0A087X1G2 TBC1D3K TBC1 domain family member 3K Homo sapiens (Human) PR
P0C7X1 TBC1D3H TBC1 domain family member 3H Homo sapiens (Human) PR
A6NDS4 TBC1D3B TBC1 domain family member 3B Homo sapiens (Human) PR
Q8IV04 TBC1D10C Carabin Homo sapiens (Human) PR
Q5TC63 GRTP1 Growth hormone-regulated TBC protein 1 Homo sapiens (Human) PR
O60343 TBC1D4 TBC1 domain family member 4 Homo sapiens (Human) PR
Q86TI0 TBC1D1 TBC1 domain family member 1 Homo sapiens (Human) PR
O60447 EVI5 Ecotropic viral integration site 5 protein homolog Homo sapiens (Human) PR
Q3MII6 TBC1D25 TBC1 domain family member 25 Homo sapiens (Human) PR
Q2NKQ1 SGSM1 Small G protein signaling modulator 1 Homo sapiens (Human) PR
Q9HA65 TBC1D17 TBC1 domain family member 17 Homo sapiens (Human) PR
Q8TC07 TBC1D15 TBC1 domain family member 15 Homo sapiens (Human) PR
O95759 TBC1D8 TBC1 domain family member 8 Homo sapiens (Human) PR
Q0IIM8 TBC1D8B TBC1 domain family member 8B Homo sapiens (Human) PR
Q66K14 TBC1D9B TBC1 domain family member 9B Homo sapiens (Human) PR
Q6ZT07 TBC1D9 TBC1 domain family member 9 Homo sapiens (Human) PR
Q8TEA7 TBCK TBC domain-containing protein kinase-like protein Homo sapiens (Human) PR
Q9UPU7 TBC1D2B TBC1 domain family member 2B Homo sapiens (Human) PR
Q8R5A6 Tbc1d22a TBC1 domain family member 22A Mus musculus (Mouse) PR
10 20 30 40 50 60
MASDGARKQF WKRSNSKLPG SIQHVYGAQH PPFDPLLHGT LLRSTAKMPT TPVKAKRVST
70 80 90 100 110 120
FQEFESNTSD AWDAGEDDDE LLAMAAESLN SEVVMETANR VLRNHSQRQG RPTLQEGPGL
130 140 150 160 170 180
QQKPRPEAEP PSPPSGDLRL VKSVSESHTS CPAESASDAA PLQRSQSLPH SATVTLGGTS
190 200 210 220 230 240
DPSTLSSSAL SEREASRLDK FKQLLAGPNT DLEELRRLSW SGIPKPVRPM TWKLLSGYLP
250 260 270 280 290 300
ANVDRRPATL QRKQKEYFAF IEHYYDSRND EVHQDTYRQI HIDIPRMSPE ALILQPKVTE
310 320 330 340 350 360
IFERILFIWA IRHPASGYVQ GINDLVTPFF VVFICEYIEA EEVDTVDVSG VPAEVLCNIE
370 380 390 400 410 420
ADTYWCMSKL LDGIQDNYTF AQPGIQMKVK MLEELVSRID EQVHRHLDQH EVRYLQFAFR
430 440 450 460 470 480
WMNNLLMREV PLRCTIRLWD TYQSEPDGFS HFHLYVCAAF LVRWRKEILE EKDFQELLLF
490 500 510
LQNLPTAHWD DEDISLLLAE AYRLKFAFAD APNHYKK