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 Q9P2N2

Entry ID Method Resolution Chain Position Source
AF-Q9P2N2-F1 Predicted AlphaFoldDB

588 variants for Q9P2N2

Variant ID(s) Position Change Description Diseaes Association Provenance
CA402016249
rs1600132453
3 V>G No ClinGen
Ensembl
rs937222072
CA296332182
5 D>Y No ClinGen
TOPMed
gnomAD
rs535604406
CA8879470
8 G>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1479747716
CA402016282
9 V>M No ClinGen
gnomAD
rs1600132498
CA402016292
10 V>G No ClinGen
Ensembl
rs868757973
CA296332185
12 T>N No ClinGen
Ensembl
rs1380954178
CA402016306
13 A>T No ClinGen
gnomAD
CA296332187
rs1041513698
14 Y>* No ClinGen
TOPMed
gnomAD
rs945686311
CA296332186
14 Y>C No ClinGen
TOPMed
gnomAD
CA402016334
rs1484607184
17 Y>C No ClinGen
TOPMed
CA402016338
rs935681577
18 A>P No ClinGen
TOPMed
gnomAD
CA296332190
rs935681577
18 A>T No ClinGen
TOPMed
gnomAD
rs1054020018
CA296332192
22 P>H No ClinGen
Ensembl
rs1327867178
CA402016371
23 P>H No ClinGen
TOPMed
gnomAD
CA402016372
rs1327867178
23 P>R No ClinGen
TOPMed
gnomAD
rs1405795888
CA402016370
23 P>S No ClinGen
TOPMed
gnomAD
rs1567927588
CA402016377
24 N>I No ClinGen
Ensembl
CA402016382
rs1352405664
25 A>T No ClinGen
TOPMed
gnomAD
rs1012380371
CA296332194
26 E>V No ClinGen
TOPMed
rs1331465772
CA402016404
28 R>H No ClinGen
gnomAD
rs1396443741
CA402016408
29 C>G No ClinGen
TOPMed
CA402016424
rs1313645176
31 P>H No ClinGen
TOPMed
gnomAD
CA402016426
rs1313645176
31 P>L No ClinGen
TOPMed
gnomAD
CA402016422
rs1243099670
31 P>S No ClinGen
gnomAD
CA402016428
rs534903406
32 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs534903406
CA8879473
32 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1164555247
CA402016434
33 A>S No ClinGen
TOPMed
CA402016449
rs1272663976
35 A>V No ClinGen
gnomAD
CA402016453
rs1414376416
36 S>T No ClinGen
TOPMed
CA402016458
rs1306018139
37 H>N No ClinGen
gnomAD
rs1356320728
CA402016465
37 H>Q No ClinGen
TOPMed
gnomAD
rs1005984519
CA296332199
38 P>R No ClinGen
gnomAD
CA402016471
rs1238985721
39 L>I No ClinGen
gnomAD
CA402016478
rs1460978966
40 S>G No ClinGen
gnomAD
CA402016477
rs1460978966
40 S>R No ClinGen
gnomAD
rs1014897832
CA296332201
41 R>G No ClinGen
TOPMed
gnomAD
CA8879479
rs562030802
42 K>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA401814994
rs1336922961
42 K>Q No ClinGen
TOPMed
rs1600218250
CA401815025
44 I>M No ClinGen
Ensembl
CA295739908
rs1013375147
44 I>V No ClinGen
TOPMed
rs527942878
CA295739912
45 P>R No ClinGen
1000Genomes
rs1384102204
CA401815043
46 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs541347505
CA295739918
46 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs940332268
CA295739920
48 R>* No ClinGen
TOPMed
gnomAD
rs761692539
CA8879481
48 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8879482
rs767177365
49 R>K No ClinGen
ExAC
rs1443377221
CA401815088
50 I>F No ClinGen
gnomAD
CA295739930
rs898711593
54 L>V No ClinGen
Ensembl
TCGA novel 55 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295739934
rs201097037
56 N>D No ClinGen
TOPMed
gnomAD
CA401815163
rs1345150782
56 N>I No ClinGen
TOPMed
gnomAD
rs1345150782
CA401815162
56 N>S No ClinGen
TOPMed
gnomAD
rs773111349
CA8879483
58 S>F No ClinGen
ExAC
gnomAD
rs761027204
CA8879484
59 L>R No ClinGen
ExAC
gnomAD
TCGA novel 60 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1242385966
CA401815249
63 A>V No ClinGen
TOPMed
CA295739945
rs1032405996
64 F>L No ClinGen
TOPMed
gnomAD
rs1423816347
CA401815283
66 R>C No ClinGen
TOPMed
gnomAD
rs1423816347
CA401815281
66 R>G No ClinGen
TOPMed
gnomAD
rs188975691
CA8879486
66 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs923057356
CA295739961
67 S>C No ClinGen
TOPMed
gnomAD
CA401815307
rs1217070323
68 N>S No ClinGen
gnomAD
rs1259910395
CA401815320
69 S>* No ClinGen
gnomAD
CA401815317
rs1267874065
69 S>T No ClinGen
gnomAD
rs1201199273
CA401815345
71 A>G No ClinGen
gnomAD
rs1245985341
CA401815338
71 A>S No ClinGen
TOPMed
CA401815365
rs1383439101
73 V>A No ClinGen
gnomAD
rs375913012
CA8879488
73 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs375913012
CA401815360
73 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs202161792
CA295739974
75 S>N No ClinGen
TOPMed
gnomAD
CA401815397
rs1008291449
75 S>R No ClinGen
TOPMed
gnomAD
rs753094289
CA8879489
76 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA401815407
rs1303760993
76 A>V No ClinGen
gnomAD
TCGA novel 78 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401815421
rs1331889078
78 M>V No ClinGen
TOPMed
gnomAD
CA401815435
rs1425458420
79 E>K No ClinGen
TOPMed
TCGA novel 83 R>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8879490
rs771982744
83 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA295739991
rs200524496
83 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA295739993
rs1038643861
85 I>T No ClinGen
TOPMed
rs1021644895
CA295739995
86 E>G No ClinGen
TOPMed
CA8879491
rs778147653
87 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs1240729066
CA401815567
91 S>R No ClinGen
gnomAD
CA401815574
rs1248160771
92 S>R No ClinGen
TOPMed
rs1600218422
CA401815592
93 M>V No ClinGen
Ensembl
CA401815608
CA8879492
rs747348265
94 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA295740011
rs182163553
95 G>E No ClinGen
1000Genomes
TOPMed
gnomAD
rs1047095944
CA295740008
95 G>R No ClinGen
TOPMed
gnomAD
CA8879493
rs138818443
100 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA401815697
rs1364977121
101 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 102 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs905048918
CA295740027
105 T>I No ClinGen
TOPMed
gnomAD
rs1385150904
CA401815785
109 E>K No ClinGen
gnomAD
CA401822998
rs1323554029
111 E>G No ClinGen
TOPMed
CA8879504
rs191744500
114 A>E No ClinGen
1000Genomes
ExAC
gnomAD
rs988747038
CA401823088
114 A>S No ClinGen
TOPMed
gnomAD
rs988747038
CA295766850
114 A>T No ClinGen
TOPMed
gnomAD
CA401823153
rs1395369749
116 W>* No ClinGen
TOPMed
rs752786512
CA8879506
118 Q>E No ClinGen
ExAC
gnomAD
rs1325680696
CA401823211
118 Q>H No ClinGen
gnomAD
CA401823230
rs1224959073
120 V>M No ClinGen
gnomAD
CA401823300
rs1340181729
124 T>A No ClinGen
gnomAD
TCGA novel 125 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764584745
CA8879508
129 D>E No ClinGen
ExAC
gnomAD
CA401823414
rs1227635591
129 D>V No ClinGen
gnomAD
rs1260662049
CA401823423
130 E>K No ClinGen
gnomAD
CA401823445
rs1287647952
131 E>K No ClinGen
gnomAD
rs1184166767
CA401823520
134 G>C No ClinGen
gnomAD
CA295766881
rs867081819
136 A>T No ClinGen
gnomAD
CA401823601
rs1428366017
136 A>V No ClinGen
gnomAD
rs751929754
CA8879509
138 L>I No ClinGen
ExAC
gnomAD
rs779705868
CA8879511
139 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA295766898
rs11552538
140 T>A No ClinGen
TOPMed
TCGA novel 141 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753394799
CA8879512
143 R>* No ClinGen
ExAC
gnomAD
rs377021107
CA8879513
143 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs942558796
CA295766914
144 T>I No ClinGen
TOPMed
CA401823702
rs1303424317
146 A>T No ClinGen
gnomAD
CA8879515
rs747681482
147 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1279785774
CA401823745
148 A>V No ClinGen
TOPMed
gnomAD
rs1458479518
CA401823749
149 V>M No ClinGen
TOPMed
CA8879518
rs746812304
150 Q>* No ClinGen
ExAC
gnomAD
CA401823878
rs1257158919
155 T>I No ClinGen
gnomAD
CA401823895
rs1489539772
156 Y>F No ClinGen
TOPMed
rs886859637
CA295766931
158 Q>R No ClinGen
Ensembl
CA401823969
CA401823967
rs1265731366
160 M>I No ClinGen
TOPMed
gnomAD
rs770031730
CA8879522
160 M>V No ClinGen
ExAC
gnomAD
rs372643834
CA295766943
161 R>G No ClinGen
ESP
TOPMed
CA401824024
rs1199021275
163 K>N No ClinGen
gnomAD
TCGA novel 163 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8879524
COSM4140153
rs775486883
164 D>V ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1375870197
CA401824087
167 S>C No ClinGen
TOPMed
TCGA novel 167 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376868486
CA8879527
168 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8879526
VAR_055833
rs2303978
168 I>V No ClinGen
UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs762199449
CA401824094
169 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA295766974
rs899396894
169 R>S No ClinGen
Ensembl
rs762199449
CA8879528
169 R>W No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 173 D>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1404079675
CA401824158
178 S>N No ClinGen
gnomAD
CA8879530
rs201543358
179 E>V No ClinGen
1000Genomes
ExAC
gnomAD
CA401824199
rs1600229662
181 P>L No ClinGen
Ensembl
rs1369271964
CA401824194
181 P>S No ClinGen
gnomAD
CA401827205
rs1239125385
182 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
COSM3388492
rs201939659
CA295775657
183 R>C pancreas [Cosmic] No ClinGen
cosmic curated
Ensembl
CA8879559
rs375800921
183 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401827219
rs375800921
183 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780172557
CA8879560
185 T>A No ClinGen
ExAC
gnomAD
rs749554860
CA401827287
189 H>N No ClinGen
ExAC
TOPMed
gnomAD
CA8879561
rs749554860
189 H>Y No ClinGen
ExAC
TOPMed
gnomAD
rs1184868367
CA401827304
190 T>P No ClinGen
TOPMed
gnomAD
CA8879562
VAR_031155
rs6506448
190 T>S No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 192 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8879563
rs574313127
193 L>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8879566
rs773711578
194 D>G No ClinGen
ExAC
gnomAD
CA8879564
rs147354786
194 D>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8879565
rs147354786
194 D>Y No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs760967117
CA8879567
196 T>I No ClinGen
ExAC
gnomAD
CA401827388
rs1449234610
197 K>E No ClinGen
gnomAD
rs201419062
CA295775762
198 E>D No ClinGen
ExAC
gnomAD
CA401827448
rs1463952938
201 E>G No ClinGen
TOPMed
CA8879569
rs139451898
201 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA295775775
rs143568067
202 L>I No ClinGen
ESP
TOPMed
rs1567970124
CA401827471
203 P>Q No ClinGen
Ensembl
rs1220741760
CA401827469
203 P>S No ClinGen
gnomAD
rs931120169
CA295775781
204 R>T No ClinGen
TOPMed
gnomAD
rs1323004649
CA401827541
209 S>G No ClinGen
gnomAD
CA295775788
rs983928279
212 M>T No ClinGen
TOPMed
gnomAD
TCGA novel 216 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401828345
rs1418574313
217 S>A No ClinGen
TOPMed
rs1482505596
CA401828346
217 S>F No ClinGen
Ensembl
rs930129163
CA295781703
218 L>V No ClinGen
TOPMed
rs761265642
CA8879592
222 T>I No ClinGen
ExAC
gnomAD
rs767097008
CA8879593
223 L>M No ClinGen
ExAC
gnomAD
rs147162571
COSM438351
CA8879595
226 A>T breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA8879596
rs766302110
226 A>V No ClinGen
ExAC
gnomAD
TCGA novel 227 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8879598
rs754709649
229 D>G No ClinGen
ExAC
gnomAD
CA295781770
rs866571138
COSM1718070
229 D>N NS [Cosmic] No ClinGen
cosmic curated
Ensembl
CA401828507
rs1252542604
230 K>E No ClinGen
TOPMed
CA8879599
rs779129100
CA401828534
231 E>D No ClinGen
ExAC
gnomAD
rs1343909041
CA401828532
231 E>G No ClinGen
gnomAD
CA295781791
rs867071340
232 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA401828549
rs1264599160
233 S>G No ClinGen
TOPMed
gnomAD
CA8879600
rs752874742
234 F>S No ClinGen
ExAC
TOPMed
gnomAD
COSM3403629
rs190733334
CA8879601
235 A>V central_nervous_system [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
CA295781827
rs950475518
236 V>L No ClinGen
TOPMed
gnomAD
CA8879604
rs570467660
237 P>L No ClinGen
1000Genomes
ExAC
gnomAD
CA401828624
rs1461403853
238 R>S No ClinGen
TOPMed
gnomAD
TCGA novel 240 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs149725405
CA295781835
240 D>H No ClinGen
ESP
TOPMed
gnomAD
CA401828672
rs1462473966
242 V>L No ClinGen
TOPMed
rs746421831
CA8879624
244 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs145548435
CA8879625
245 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372099387
CA8879626
246 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1339468980
CA401829699
247 T>S No ClinGen
gnomAD
CA401829721
rs996275049
249 P>L No ClinGen
TOPMed
gnomAD
CA295787127
rs996275049
249 P>R No ClinGen
TOPMed
gnomAD
rs1231874227
CA401829730
250 V>A No ClinGen
gnomAD
rs749612619
CA8879628
250 V>L No ClinGen
ExAC
gnomAD
rs376919020
CA8879631
252 P>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376919020
CA8879630
252 P>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8879633
rs770388120
254 H>L No ClinGen
ExAC
gnomAD
rs770388120
CA8879632
254 H>R No ClinGen
ExAC
gnomAD
rs1488157391
CA401829786
256 N>D No ClinGen
gnomAD
rs765143625
CA8879635
256 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA8879636
rs775419249
257 G>V No ClinGen
ExAC
TOPMed
gnomAD
COSM3692179
rs1223142867
CA401829828
259 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA8879638
rs549946935
260 E>D No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1175364088
CA401829832
260 E>Q No ClinGen
gnomAD
rs1467475888
CA401829848
261 P>S No ClinGen
gnomAD
CA8879639
rs560014794
262 G>E No ClinGen
ExAC
gnomAD
rs191955313
CA8879641
264 P>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA295787199
rs191955313
264 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs191955313
CA8879640
264 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA401829902
rs1397908121
266 Q>E No ClinGen
gnomAD
CA401829907
rs1299718655
266 Q>R No ClinGen
gnomAD
TCGA novel 267 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600264895
CA401829917
267 N>Y No ClinGen
Ensembl
TCGA novel 268 A>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs148484875
CA8879642
COSM3145609
268 A>V large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 269 I>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs913460452
CA295787226
269 I>V No ClinGen
TOPMed
gnomAD
CA8879644
rs780359259
270 S>G No ClinGen
ExAC
rs749678921
CA8879645
270 S>N No ClinGen
ExAC
gnomAD
CA401830623
rs1489539550
271 D>G No ClinGen
gnomAD
CA8879647
rs777511926
271 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA8879673
rs768630189
272 D>N No ClinGen
ExAC
gnomAD
CA401830640
rs1237498915
273 D>E No ClinGen
gnomAD
rs1180302438
CA401830659
276 E>A No ClinGen
gnomAD
rs1180302438
CA401830657
276 E>G No ClinGen
gnomAD
CA401830674
rs1408505672
278 N>S No ClinGen
gnomAD
rs1170117420
CA401830683
279 I>T No ClinGen
gnomAD
CA8879674
rs774085134
280 P>A No ClinGen
ExAC
gnomAD
CA401830701
rs1327451686
282 E>D No ClinGen
TOPMed
CA295788578
rs991477712
282 E>K No ClinGen
TOPMed
CA295788587
rs144126596
283 A>T No ClinGen
ESP
TOPMed
gnomAD
rs369043297
CA8879675
285 E>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401830746
rs1330038397
289 E>V No ClinGen
gnomAD
CA8879677
rs773520808
292 Y>D No ClinGen
ExAC
gnomAD
TCGA novel 292 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295788628
rs867413651
293 S>L No ClinGen
Ensembl
CA8879681
rs760019406
295 M>I No ClinGen
ExAC
TOPMed
gnomAD
rs753930092
CA8879680
295 M>R No ClinGen
ExAC
gnomAD
CA8879682
rs765768815
297 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs374298701
CA8879684
298 E>K No ClinGen
ESP
ExAC
gnomAD
CA401830812
rs1266468842
299 A>V No ClinGen
TOPMed
CA295788662
rs750034646
302 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs902613941
CA295788666
305 L>P No ClinGen
Ensembl
CA8879688
rs779490362
306 K>T No ClinGen
ExAC
gnomAD
TCGA novel 308 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs747979354
CA8879693
314 D>A No ClinGen
ExAC
TOPMed
gnomAD
rs151056858
CA8879694
314 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377260177
CA8879691
314 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377260177
CA8879690
314 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs747979354
CA8879692
314 D>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 314 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs761025338
CA8879695
315 Y>D No ClinGen
ExAC
gnomAD
CA401831086
rs1331542354
316 V>F No ClinGen
gnomAD
rs1355557047
CA401831137
318 T>N No ClinGen
gnomAD
rs1338616142
CA401832224
319 K>R No ClinGen
gnomAD
rs200517537
CA8879715
321 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA295790520
rs900343574
322 V>I No ClinGen
TOPMed
rs1344364923
CA401832355
325 T>N No ClinGen
gnomAD
rs1441860859
CA401832369
326 R>I No ClinGen
TOPMed
TCGA novel 327 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 328 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295790524
rs920150375
332 A>V No ClinGen
Ensembl
TCGA novel 333 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769822230
CA8879717
334 D>E No ClinGen
ExAC
gnomAD
rs1280637248
CA401832541
334 D>G No ClinGen
gnomAD
CA295790554
rs996101228
337 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 339 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8879718
CA401832662
rs775514392
340 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs775514392
CA295790573
340 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA8879719
rs763511946
344 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764582880
COSM1389636
CA8879720
344 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs774706809
CA8879721
COSM709007
347 S>F lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1476742152
CA401832822
348 L>P No ClinGen
gnomAD
CA401832855
rs762184402
351 L>V No ClinGen
ExAC
gnomAD
rs1567977926 355 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 361 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 364 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401833122
rs1600272052
366 K>E No ClinGen
Ensembl
CA401833156
rs1567977938
367 T>I No ClinGen
Ensembl
rs1567977938
CA401833153
367 T>R No ClinGen
Ensembl
CA401833186
rs1430388197
369 K>E No ClinGen
gnomAD
CA8879726
rs577318866
370 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1567977951
CA401833242
372 G>A No ClinGen
Ensembl
CA8879729
rs752239825
373 R>* No ClinGen
ExAC
TOPMed
gnomAD
COSM709003
CA401833260
rs758474507
373 R>L lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA8879730
rs758474507
373 R>Q No ClinGen
ExAC
gnomAD
CA8879758
rs781087496
374 D>E No ClinGen
ExAC
gnomAD
rs1353746181
CA401833336
375 N>S No ClinGen
gnomAD
CA401833360
rs1567978059
377 I>N No ClinGen
Ensembl
CA295790715
rs1272484
378 F>L No ClinGen
Ensembl
rs756337539
CA8879760
378 F>S No ClinGen
ExAC
TOPMed
CA8879761
rs780195355
379 G>R No ClinGen
ExAC
gnomAD
rs749397209
CA8879762
380 V>A No ClinGen
ExAC
gnomAD
CA8879764
rs369240181
381 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8879763
rs768682890
381 P>S No ClinGen
ExAC
gnomAD
rs1421256998
CA401833432
383 T>I No ClinGen
TOPMed
gnomAD
CA401833428
rs1421256998
383 T>K No ClinGen
TOPMed
gnomAD
rs1421256998
CA401833430
383 T>R No ClinGen
TOPMed
gnomAD
TCGA novel 386 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401833464
rs1237719451
387 D>N No ClinGen
TOPMed
CA295790723
rs923941040
388 G>S No ClinGen
TOPMed
CA8879767
rs373273554
390 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401833511
rs373273554
390 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs761051990
CA8879768
390 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8879769
rs769582556
391 K>M No ClinGen
ExAC
gnomAD
rs775233672
CA8879770
392 K>R No ClinGen
ExAC
gnomAD
rs762580085
CA8879771
393 D>E No ClinGen
ExAC
TOPMed
gnomAD
rs1185370985
COSM344661
CA401833546
393 D>N lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA8879772
rs763696847
394 P>A No ClinGen
ExAC
gnomAD
CA401833569
rs1333200967
394 P>R No ClinGen
gnomAD
rs1600272491
CA401833570
395 G>R No ClinGen
Ensembl
CA295790732
rs761880362
396 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs761880362
CA8879774
396 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1316838173
CA401833595
397 K>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs376774777
CA8879776
398 V>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA295790761
rs376774777
398 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8879775
rs376774777
398 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1048892749
CA295790766
400 L>R No ClinGen
TOPMed
rs887669293
CA295790769
401 V>A No ClinGen
TOPMed
rs1600272545
CA401833685
404 K>* No ClinGen
Ensembl
rs1600272545
CA401833683
404 K>E No ClinGen
Ensembl
CA401834445
rs1567978927
405 F>S No ClinGen
Ensembl
rs752833545
CA8879799
405 F>V No ClinGen
ExAC
gnomAD
rs778375590
CA8879801
409 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs371304813
CA8879802
411 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401834522
rs1187204751
413 G>D No ClinGen
TOPMed
TCGA novel 419 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA8879803
rs757813579
419 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA8879804
rs781727091
421 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA8879805
rs746170150
421 R>Q No ClinGen
ExAC
gnomAD
TCGA novel 423 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1369346560
CA401834710
424 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA8879806
rs149236554
425 C>G No ClinGen
1000Genomes
ExAC
TOPMed
rs149236554
CA295792282
425 C>R No ClinGen
1000Genomes
ExAC
TOPMed
rs138868164
CA8879807
429 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8879825
rs747804678
432 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA8879824
rs544259842
432 Y>H No ClinGen
1000Genomes
ExAC
gnomAD
rs1038943587
CA295796344
433 R>C No ClinGen
Ensembl
rs149431711
CA8879826
433 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 433 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401836081
rs149431711
433 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA295796361
rs995488018
435 E>* No ClinGen
TOPMed
gnomAD
rs1179535333
CA401836125
436 L>F No ClinGen
TOPMed
CA401836135
rs1214308156
COSM268697
436 L>P Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 438 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401836191
rs1459335383
439 K>R No ClinGen
TOPMed
CA8879827
rs772776911
443 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs746451560
CA8879828
446 K>T No ClinGen
ExAC
gnomAD
TCGA novel 447 W>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401836375
rs1178664297
448 D>N No ClinGen
gnomAD
rs770866566
CA8879829
449 K>T No ClinGen
ExAC
gnomAD
rs1162302393
CA401836413
450 M>I No ClinGen
TOPMed
gnomAD
TCGA novel 450 M>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs186052265
CA8879830
452 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1461508505
CA401836465
454 E>D No ClinGen
gnomAD
rs1229515235
CA401836493
456 A>E No ClinGen
TOPMed
rs759405946
CA8879831
456 A>S No ClinGen
ExAC
gnomAD
rs764980900
CA8879832
458 M>I No ClinGen
ExAC
gnomAD
TCGA novel 458 M>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA295796415
rs917287052
459 L>F No ClinGen
TOPMed
gnomAD
CA8879835
rs764405442
461 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8879837
rs761936891
462 F>L No ClinGen
ExAC
gnomAD
rs1233902143
CA401836649
464 R>G No ClinGen
gnomAD
rs768170234
CA8879838
464 R>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 465 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 466 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600282651
CA401836714
467 P>L No ClinGen
Ensembl
rs1233278869
CA401836760
470 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs374931092
CA401836782
471 F>L No ClinGen
ESP
TOPMed
gnomAD
CA401836786
rs1600282680
472 P>A No ClinGen
Ensembl
rs1259101195
CA401836790
472 P>L No ClinGen
gnomAD
rs111868785
CA295796439
473 V>A No ClinGen
Ensembl
CA8879842
rs780344969
473 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1159419624
CA401836829
475 Y>D No ClinGen
TOPMed
rs1441779585
CA401836858
477 P>S No ClinGen
TOPMed
CA401836903
rs1406139129
480 I>N No ClinGen
TOPMed
rs1428479362
CA401836895
480 I>V No ClinGen
Ensembl
CA295796446
rs1050703307
483 M>T No ClinGen
TOPMed
gnomAD
rs1324817295
CA401838338
487 P>L No ClinGen
gnomAD
rs1317874273
CA401838328
487 P>T No ClinGen
gnomAD
CA8879869
rs745378361
CA8879868
488 H>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM398060
rs749070329
CA8879870
489 V>I lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 492 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401838479
rs1370903498
494 Q>H No ClinGen
TOPMed
rs1191586868
CA401838509
496 L>S No ClinGen
Ensembl
rs1370100986
CA401838503
496 L>V No ClinGen
gnomAD
TCGA novel 500 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs768612992
CA8879871
501 M>L No ClinGen
ExAC
gnomAD
rs768612992
CA401838602
501 M>V No ClinGen
ExAC
gnomAD
CA8879872
COSM172433
rs774266585
502 A>V Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA295799564
rs878867026
505 D>V No ClinGen
Ensembl
CA295799570
rs935993270
507 N>S No ClinGen
gnomAD
CA401838736
rs1243221610
508 R>K No ClinGen
gnomAD
CA401838776
rs760753313
509 D>G No ClinGen
ExAC
gnomAD
rs368842280
CA8879878
509 D>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8879877
rs368842280
509 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760753313
CA8879879
509 D>V No ClinGen
ExAC
gnomAD
CA401838782
rs1461010153
510 A>T No ClinGen
TOPMed
CA401838830
rs1430578652
512 Q>R No ClinGen
gnomAD
CA8879903
rs374350860
513 A>V No ClinGen
ESP
ExAC
gnomAD
rs767097228
CA8879904
514 L>F No ClinGen
ExAC
gnomAD
rs1443942339
CA401839568
515 M>I No ClinGen
TOPMed
rs750132111
CA8879905
516 T>A No ClinGen
ExAC
gnomAD
rs1406811219
CA401839592
519 N>D No ClinGen
gnomAD
CA8879906
rs569160351
519 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1182886646
CA401839599
520 K>E No ClinGen
gnomAD
rs768349698
CA8879909
524 N>S No ClinGen
ExAC
gnomAD
rs1418525870
CA401839644
526 S>* No ClinGen
gnomAD
TCGA novel 527 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1567984063
CA401839655
528 N>H No ClinGen
Ensembl
rs1388283527
CA401839662
528 N>K No ClinGen
TOPMed
CA401839664
rs1461455875
529 R>* No ClinGen
TOPMed
gnomAD
rs778940127
CA8879911
529 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs778940127
CA8879910
529 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs758170033
CA8879912
531 S>C No ClinGen
ExAC
gnomAD
CA8879914
rs777396655
532 L>P No ClinGen
ExAC
gnomAD
CA8879915
rs747301621
533 W>C No ClinGen
ExAC
TOPMed
gnomAD
rs1156871331
CA401839703
535 I>F No ClinGen
TOPMed
rs1156871331
CA401839702
535 I>V No ClinGen
TOPMed
TCGA novel 539 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771040905
CA8879916
540 A>T No ClinGen
ExAC
gnomAD
CA8879918
rs745879875
543 L>P No ClinGen
ExAC
gnomAD
CA401839779
rs1450132993
545 F>L No ClinGen
TOPMed
CA8879919
rs370508108
548 S>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401839821
rs1341917924
548 S>R No ClinGen
gnomAD
CA401839826
rs1206243647
549 K>E No ClinGen
TOPMed
gnomAD
CA8879920
rs373684049
553 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8879922
rs769114893
554 E>D No ClinGen
ExAC
gnomAD
CA8879921
rs763339559
554 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA401839950
rs1191015194
558 L>* No ClinGen
gnomAD
CA401839952
rs1374654317
558 L>F No ClinGen
gnomAD
rs760443545
CA8879924
559 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA401839959
rs760443545
559 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA8879925
rs765885648
560 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs753416272
CA8879926
561 T>I No ClinGen
ExAC
gnomAD
CA401839999
rs759071148
562 A>E No ClinGen
ExAC
TOPMed
gnomAD
COSM1389650
CA8879927
rs759071148
562 A>V Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs139147332
CA8879930
563 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA401840018
rs1294078928
564 H>Y No ClinGen
gnomAD
CA401840038
rs1185229533
565 I>S No ClinGen
gnomAD
CA8879931
rs73386355
565 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199782367
CA8879932
566 I>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8879933
rs751989443
567 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs781333008
CA8879934
567 R>H No ClinGen
ExAC
gnomAD
CA401840092
rs1213362802
570 L>F No ClinGen
gnomAD
CA401840131
rs1256801958
573 Q>* No ClinGen
gnomAD
rs1011244454
CA295801454
575 I>S No ClinGen
Ensembl
CA295801449
rs958977825
575 I>V No ClinGen
TOPMed
CA8879937
CA8879936
rs769823979
576 L>F No ClinGen
ExAC
gnomAD
rs533594088
CA295801463
578 K>R No ClinGen
1000Genomes
CA8879960
rs773686267
579 V>F No ClinGen
ExAC
CA8879962
rs769561900
581 S>P No ClinGen
ExAC
gnomAD
TCGA novel 581 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs973662488
CA295801812
584 I>T No ClinGen
Ensembl
rs1392843973
CA401840522
585 T>I No ClinGen
gnomAD
CA401840521
rs1392843973
585 T>S No ClinGen
gnomAD
CA401840526
rs1163145001
586 Q>P No ClinGen
TOPMed
CA8879965
rs764113814
587 V>A No ClinGen
ExAC
gnomAD
CA401840532
rs762310570
587 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA8879964
rs762310570
587 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1373027314
CA401840551
590 M>V No ClinGen
gnomAD
CA8879967
rs774113963
591 N>H No ClinGen
ExAC
rs761706342
CA8879968
593 A>V No ClinGen
ExAC
gnomAD
CA295801844
rs144213417
594 T>K No ClinGen
ESP
TOPMed
gnomAD
COSM301692
CA295801846
rs144213417
594 T>M Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
CA401840599
rs1248202129
597 L>S No ClinGen
TOPMed
rs1336808135
CA401840606
598 K>M No ClinGen
gnomAD
CA8879972
rs371923268
600 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1490149560
CA401840632
601 L>F No ClinGen
TOPMed
rs561738285
CA295801858
602 P>R No ClinGen
Ensembl
rs1479527835
CA401840657
603 S>T No ClinGen
TOPMed
gnomAD
CA401840672
rs1315172509
604 V>A No ClinGen
TOPMed
CA8879974
rs754975067
606 K>E No ClinGen
ExAC
gnomAD
CA401840716
rs1474600398
608 L>P No ClinGen
gnomAD
rs1251996066
CA401840710
608 L>V No ClinGen
TOPMed
gnomAD
CA8879976
rs748649231
610 R>T No ClinGen
ExAC
gnomAD
rs1407624446
CA401840759
611 K>N No ClinGen
TOPMed
gnomAD
TCGA novel 611 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA401840768
rs758958518
612 T>I No ClinGen
ExAC
TOPMed
gnomAD
COSM1245345
CA8879977
rs758958518
612 T>N oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs1310105160
CA401840787
614 E>G No ClinGen
gnomAD
rs747306958
CA8879979
614 E>K No ClinGen
ExAC
gnomAD
rs74414891
CA8879981
615 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM438355
CA8879982
rs74414891
615 R>Q breast [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA401840795
rs1414282401
615 R>W No ClinGen
TOPMed
gnomAD
CA295801895
rs913882546
616 E>D No ClinGen
TOPMed
rs1197119084
CA401841784
617 T>N No ClinGen
TOPMed
CA401841796
rs1479444185
618 A>E No ClinGen
TOPMed
CA8879999
rs757656104
620 P>S No ClinGen
ExAC
TOPMed
rs781587696
CA8880000
622 T>A No ClinGen
ExAC
gnomAD
rs1442509871
CA401841890
625 V>I No ClinGen
gnomAD
rs748941429
CA8880001
626 L>V No ClinGen
ExAC
gnomAD
TCGA novel 627 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 629 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1391227134
CA401841971
630 P>L No ClinGen
gnomAD
CA8880004
rs778293376
630 P>S No ClinGen
ExAC
gnomAD
COSM3764682
CA295804686
rs142301237
631 S>L Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
NCI-TCGA
TOPMed
gnomAD
CA8880006
rs772023309
633 R>G No ClinGen
ExAC
gnomAD
CA401842003
rs1415130753
633 R>K No ClinGen
gnomAD
COSM252357
CA8880007
rs773098375
634 R>* ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 634 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs151310799
CA8880008
634 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8880010
rs776470635
635 M>I No ClinGen
ExAC
gnomAD
CA8880009
rs141734364
635 M>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA295804717
rs141734364
635 M>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377109412
CA8880033
637 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA8880031
rs775812719
637 D>V No ClinGen
ExAC
gnomAD
CA8880035
rs536437799
639 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs536437799
CA8880034
639 P>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA8880038
rs756461706
643 I>T No ClinGen
ExAC
gnomAD
CA401821590
rs1567986559
643 I>V No ClinGen
Ensembl
rs752400493
CA8880040
644 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA8880039
rs780368570
COSM1245349
644 R>W Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA8880042
rs777327752
646 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1203525791
CA401821637
COSM1245355
647 A>T oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA8880044
rs757152535
648 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs1352995660
CA401821696
652 K>E No ClinGen
TOPMed
gnomAD
CA401821694
rs1352995660
652 K>Q No ClinGen
TOPMed
gnomAD
CA401821737
rs1600299804
655 M>V No ClinGen
Ensembl
CA8880046
rs374093700
656 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA295752006
rs1034695782
656 A>V No ClinGen
Ensembl
CA401821775
rs1286403955
657 I>M No ClinGen
gnomAD
CA295752007
rs775403492
660 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA8880048
rs775403492
660 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA401821815
rs1272793598
660 N>S No ClinGen
gnomAD
CA8880049
rs749578890
661 N>H No ClinGen
ExAC
TOPMed
gnomAD
CA401821827
rs749578890
661 N>Y No ClinGen
ExAC
TOPMed
gnomAD
rs763546832
CA295752009
663 T>P No ClinGen
Ensembl
CA8880050
rs573361587
665 A>V No ClinGen
1000Genomes
ExAC
gnomAD
rs774587457
CA8880051
666 K>Q No ClinGen
ExAC
CA295752012
rs1014475397
667 D>N No ClinGen
gnomAD
CA295752013
rs542709498
668 I>M No ClinGen
Ensembl
CA401821991
rs1442520548
672 F>L No ClinGen
TOPMed
CA401821996
rs1189536290
673 Q>E No ClinGen
gnomAD
CA401822008
rs1379896474
673 Q>R No ClinGen
gnomAD
CA401822035
rs1329011513
674 Y>C No ClinGen
TOPMed
TCGA novel 675 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1445862045
CA401822071
676 N>D No ClinGen
TOPMed
CA8880054
rs773812129
676 N>K No ClinGen
ExAC
gnomAD
CA401822073
rs1474970732
676 N>T No ClinGen
gnomAD
CA8880055
rs761067458
677 S>G No ClinGen
ExAC
gnomAD
rs1412184647
CA401825288
677 S>R No ClinGen
gnomAD
CA401825295
rs1600312841
678 H>N No ClinGen
Ensembl
CA401825300
COSM3821703
rs1600312841
678 H>Y breast [Cosmic] No ClinGen
cosmic curated
Ensembl
CA8880126
rs752555298
679 G>S No ClinGen
ExAC
gnomAD
rs891927423
CA295755043
679 G>V No ClinGen
TOPMed
gnomAD
COSM1238212
CA8880127
rs758085743
682 E>K oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs763916209
CA8880128
683 C>R No ClinGen
ExAC
gnomAD
CA8880129
RCV000947870
rs116232392
683 C>Y No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
CA295755051
rs781314519
684 I>M No ClinGen
ExAC
TOPMed
gnomAD
COSM179623
rs370814527
CA8880132
685 K>E large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA401825470
rs1228782327
685 K>T No ClinGen
gnomAD
rs756658051
CA8880133
686 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1339784683
CA401825512
687 Q>* Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs145991748
CA8880134
689 Q>* No ClinGen
ESP
ExAC
TOPMed
CA8880136
rs768951899
690 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA8880137
rs756912359
690 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1238670059
CA401825676
694 I>N No ClinGen
gnomAD
rs1489081280
CA401826692
700 E>G No ClinGen
TOPMed
rs374455295
CA8880154
701 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs750533475
CA8880155
705 P>A No ClinGen
ExAC
gnomAD
TCGA novel 705 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs142653243
CA8880157
707 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8880158
rs780161676
707 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA8880160
rs755508220
708 Y>C No ClinGen
ExAC
gnomAD
rs951330038
CA295755984
709 I>L No ClinGen
Ensembl
CA8880161
rs779427893
709 I>M No ClinGen
ExAC
gnomAD
CA8880162
rs748469883
710 L>S No ClinGen
ExAC
rs1321036747
CA401826766
711 D>E No ClinGen
gnomAD
rs766010791
CA295755987
711 D>N No ClinGen
gnomAD
COSM3772462
CA8880165
rs374272304
714 R>H Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757971413
CA295755995
715 I>V No ClinGen
Ensembl
CA8880166
rs769233834
717 P>T No ClinGen
ExAC
gnomAD
CA401826844
rs1304589949
718 Q>E No ClinGen
gnomAD
CA401826904
rs1402024366
721 W>R No ClinGen
TOPMed
rs1345530783
CA401826925
722 V>L No ClinGen
gnomAD
CA401826968
rs1398909315
723 I>S No ClinGen
gnomAD
rs1338726188
CA401827008
725 P>T No ClinGen
TOPMed
rs1327756838
CA401827085
727 Q>* No ClinGen
gnomAD
rs1056408
CA401827096
727 Q>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA8880169
VAR_031156
rs1056408
727 Q>P No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1269222028
CA401827108
728 S>R No ClinGen
gnomAD

No associated diseases with Q9P2N2

4 regional properties for Q9P2N2

Type Name Position InterPro Accession
domain FKBP-type peptidyl-prolyl cis-trans isomerase domain 51 - 142 IPR001179
repeat Tetratricopeptide repeat 170 - 203 IPR019734-1
repeat Tetratricopeptide repeat 218 - 251 IPR019734-2
repeat Tetratricopeptide repeat 252 - 285 IPR019734-3

Functions

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

2 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

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.

5 GO annotations of biological process

Name Definition
negative regulation of GTP binding Any process that stops, prevents or reduces the frequency, rate or extent of GTP binding.
negative regulation of stress fiber assembly Any process that stops, prevents, or reduces the frequency, rate or extent of the assembly a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts.
regulation of actin filament polymerization Any process that modulates the frequency, rate or extent of the assembly of actin filaments by the addition of actin monomers to a filament.
regulation of small GTPase mediated signal transduction Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.
signal transduction The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

5 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A7E300 DLC1 Rho GTPase-activating protein 7 Bos taurus (Bovine) SS
Q14CB8 ARHGAP19 Rho GTPase-activating protein 19 Homo sapiens (Human) PR
Q9R0Z9 Dlc1 Rho GTPase-activating protein 7 Mus musculus (Mouse) SS
Q8BN58 Arhgap28 Rho GTPase-activating protein 28 Mus musculus (Mouse) PR
Q63744 Dlc1 Rho GTPase-activating protein 7 Rattus norvegicus (Rat) SS
10 20 30 40 50 60
MEVEDSGGVV LTAYHSYARA QPPNAESRCA PRAAASHPLS RKSIPRCRRI NRMLSNESLH
70 80 90 100 110 120
PPAFSRSNSE ASVDSASMED FWREIESIKD SSMGGQEEPP PAEVTPVDEG ELEAEWLQDV
130 140 150 160 170 180
GLSTLISGDE EEDGKALLST LTRTQAAAVQ KRYHTYTQTM RKKDKQSIRD VRDIFGVSES
190 200 210 220 230 240
PPRDTCGNHT NQLDGTKEER ELPRVIKTSG SMPDDASLNS TTLSDASQDK EGSFAVPRSD
250 260 270 280 290 300
SVAILETIPV LPVHSNGSPE PGQPVQNAIS DDDFLEKNIP PEAEELSFEV SYSEMVTEAL
310 320 330 340 350 360
KRNKLKKSEI KKEDYVLTKF NVQKTRFGLT EAGDLSAEDM KKIRHLSLIE LTAFFDAFGI
370 380 390 400 410 420
QLKRNKTEKV KGRDNGIFGV PLTVLLDGDR KKDPGVKVPL VLQKFFEKVE ESGLESEGIF
430 440 450 460 470 480
RLSGCTAKVK QYREELDAKF NADKFKWDKM CHREAAVMLK AFFRELPTSL FPVEYIPAFI
490 500 510 520 530 540
SLMERGPHVK VQFQALHLMV MALPDANRDA AQALMTFFNK VIANESKNRM SLWNISTVMA
550 560 570 580 590 600
PNLFFSRSKH SDYEELLLAN TAAHIIRLML KYQKILWKVP SFLITQVRRM NEATMLLKKQ
610 620 630 640 650 660
LPSVRKLLRR KTLERETASP KTSKVLQKSP SARRMSDVPE GVIRVHAPLL SKVSMAIQLN
670 680 690 700 710 720
NQTKAKDILA KFQYENSHGS SECIKIQNQR LYEIGGNIGE HCLDPDAYIL DVYRINPQAE
WVIKPQQSS