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 Q2M3C6

Entry ID Method Resolution Chain Position Source
AF-Q2M3C6-F1 Predicted AlphaFoldDB

475 variants for Q2M3C6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs749288406
CA7672961
2 A>T No ClinGen
ExAC
gnomAD
CA393628399
rs1364563968
2 A>V No ClinGen
gnomAD
CA7672962
rs768613347
5 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs114291110
CA7672963
6 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs114291110
CA7672964
6 S>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369334168
CA7672965
7 F>L No ClinGen
ESP
ExAC
gnomAD
CA393628464
rs1489075341
8 N>I No ClinGen
TOPMed
CA393628496
rs1353512983
10 T>I No ClinGen
TOPMed
gnomAD
CA393628498
rs1353512983
10 T>S No ClinGen
TOPMed
gnomAD
rs1319691126
CA393628506
11 N>S No ClinGen
TOPMed
rs1398266134
CA393629039
13 Q>H No ClinGen
gnomAD
rs928955471
CA273417228
16 I>V No ClinGen
gnomAD
CA7672982
rs747935485
18 G>R No ClinGen
ExAC
TOPMed
gnomAD
rs771915334
CA7672984
20 I>V No ClinGen
ExAC
gnomAD
CA393629102
rs1219497543
23 V>A No ClinGen
gnomAD
CA7672985
rs370445042
25 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA273417243
rs891192320
27 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 28 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771077402
CA7672987
29 Q>* No ClinGen
ExAC
gnomAD
rs776711597
CA7672988
32 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393629175
rs1251305530
34 T>A No ClinGen
gnomAD
CA393629179
rs1486216365
34 T>I No ClinGen
gnomAD
TCGA novel 35 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393629198
rs1423735164
37 I>V No ClinGen
gnomAD
rs1044547272
CA273417252
38 A>S No ClinGen
Ensembl
CA393629210
rs1170600566
39 P>S No ClinGen
gnomAD
CA393629219
rs1427462938
40 V>G No ClinGen
gnomAD
CA7672991
rs776195376
41 Q>R No ClinGen
ExAC
gnomAD
rs1596128064
CA393629228
42 L>V No ClinGen
Ensembl
rs763386965
CA7672992
47 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs540647010
CA7672995
48 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7672994
rs540647010
48 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200391773
CA7672993
48 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1596128082
CA393629281
50 L>W No ClinGen
Ensembl
COSM1243122
rs1382699944
CA393629286
51 P>S oesophagus [Cosmic] No ClinGen
cosmic curated
gnomAD
rs753279696
CA7672997
52 L>P No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 54 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7672998
rs754552309
55 V>I No ClinGen
ExAC
gnomAD
CA7673000
rs778812089
56 D>H No ClinGen
ExAC
TOPMed
gnomAD
CA7672999
rs778812089
56 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA393629319
rs1348785407
57 L>F No ClinGen
gnomAD
TCGA novel 57 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393629328
rs1213547282
58 S>C No ClinGen
gnomAD
TCGA novel 58 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758162612
CA7673001
59 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA7673003
rs200729077
60 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7673004
rs372015383
62 S>L No ClinGen
ESP
ExAC
gnomAD
rs745928129
CA7673006
63 Q>R No ClinGen
ExAC
gnomAD
CA7673007
rs374327200
64 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776108925
CA7673008
64 L>H No ClinGen
ExAC
gnomAD
TCGA novel 66 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673009
rs201363747
67 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs764539432
CA7673010
68 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA7673012
rs762095902
COSM3504157
70 E>K Variant assessed as Somatic; 4.97e-05 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762095902
CA393629391
70 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA273417362
rs971145002
73 Q>E No ClinGen
TOPMed
rs1567163930
CA393629424
74 R>T No ClinGen
Ensembl
TCGA novel 75 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673014
rs753553131
75 E>K No ClinGen
ExAC
gnomAD
rs751493153
CA7673038
77 S>F No ClinGen
ExAC
gnomAD
rs1178787685
CA393630900
80 L>M No ClinGen
gnomAD
CA393630902
rs1409454559
80 L>P No ClinGen
gnomAD
rs368599050
CA7673039
82 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7673040
rs375702425
84 C>Y No ClinGen
ESP
ExAC
gnomAD
rs756338158
CA7673042
85 G>E No ClinGen
ExAC
gnomAD
CA7673041
rs750274766
85 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs976221083
CA273427227
87 R>T No ClinGen
TOPMed
gnomAD
CA7673043
rs780436455
88 A>V No ClinGen
ExAC
gnomAD
CA7673046
rs779440839
90 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA7673047
rs779440839
90 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA7673048
rs772651590
92 Q>P No ClinGen
ExAC
gnomAD
CA7673049
rs201537562
93 V>G No ClinGen
ExAC
gnomAD
TCGA novel 95 L>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA273427274
rs905116019
96 L>F No ClinGen
Ensembl
rs1439192569
CA393631009
97 S>N No ClinGen
TOPMed
CA393631013
rs1596140403
97 S>R No ClinGen
Ensembl
CA393631030
rs1163659376
100 L>P No ClinGen
TOPMed
CA7673050
rs761044327
100 L>V No ClinGen
ExAC
TOPMed
gnomAD
CA393631064
rs1307762448
105 V>L No ClinGen
gnomAD
rs937884671
CA273427280
106 A>S No ClinGen
Ensembl
rs1206140171
CA393631097
110 L>S No ClinGen
gnomAD
CA393631112
rs1596140418
112 V>G No ClinGen
Ensembl
rs1387952651
CA393631118
113 I>S No ClinGen
TOPMed
rs564550568
CA7673052
118 E>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs762495527
CA7673053
118 E>V No ClinGen
ExAC
gnomAD
TCGA novel 122 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 123 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs186201023
CA7673055
124 K>N No ClinGen
1000Genomes
ExAC
gnomAD
CA393631206
rs1596140445
127 Q>H No ClinGen
Ensembl
rs1311429568
CA393631231
129 S>P No ClinGen
TOPMed
rs780642775
CA7673074
131 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs550666214
CA273429851
COSM1939732
136 G>S pancreas [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1413079047
CA393631336
136 G>V No ClinGen
gnomAD
CA7673077
rs369743897
137 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393631354
rs1436655378
138 I>F No ClinGen
gnomAD
rs747394893
CA273429879
140 W>S No ClinGen
Ensembl
CA7673078
rs149378942
141 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 144 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1300459257
CA393631441
144 V>L No ClinGen
TOPMed
gnomAD
rs765514600
CA7673081
147 S>F No ClinGen
ExAC
gnomAD
CA7673083
rs758543246
148 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1210730826
CA393631518
150 F>L No ClinGen
gnomAD
CA393631548
rs1423749413
152 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 153 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393632285
rs1490068727
153 T>S No ClinGen
TOPMed
gnomAD
CA393632287
rs1198676505
154 V>I No ClinGen
TOPMed
gnomAD
TCGA novel 155 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1364721120
CA393632300
156 R>P No ClinGen
gnomAD
rs200133901
CA7673100
157 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393632311
rs1157629800
158 V>L No ClinGen
gnomAD
rs1461522447
CA393632351
164 D>Y No ClinGen
gnomAD
rs751672162
CA7673103
166 I>V No ClinGen
ExAC
gnomAD
rs781729675
CA7673105
167 E>G No ClinGen
ExAC
gnomAD
rs1329339593
CA393632371
167 E>K No ClinGen
TOPMed
gnomAD
COSM3794417
rs1391701952
CA393632442
175 G>R Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA393632448
rs1308649639
176 A>T No ClinGen
gnomAD
CA7673132
rs199900820
177 V>L No ClinGen
1000Genomes
ExAC
gnomAD
rs770518242
CA7673133
178 I>F No ClinGen
ExAC
gnomAD
rs745772345
CA7673135
183 A>S No ClinGen
ExAC
gnomAD
CA393632494
rs1401338642
183 A>V No ClinGen
gnomAD
rs769651494
CA7673136
184 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768852904
CA7673139
187 A>E No ClinGen
ExAC
gnomAD
rs750489923
CA7673144
192 N>K No ClinGen
ExAC
CA7673142
rs767683352
192 N>S No ClinGen
ExAC
gnomAD
CA7673146
rs143442681
196 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs372297539
CA393632598
199 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393632601
rs1483204532
200 A>T No ClinGen
gnomAD
CA393632606
rs1208867721
201 I>V No ClinGen
TOPMed
gnomAD
rs1335348644
CA393632622
203 L>F No ClinGen
TOPMed
rs763810883
CA7673149
205 I>V No ClinGen
ExAC
gnomAD
rs1306408484
CA393632641
206 M>L No ClinGen
TOPMed
rs1306408484
CA393632640
206 M>V No ClinGen
TOPMed
rs751309321
CA7673150
207 L>P No ClinGen
ExAC
gnomAD
CA7673151
rs756884747
208 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs919438683
CA273438621
208 R>W No ClinGen
TOPMed
gnomAD
CA393632672
rs1173613981
211 R>G No ClinGen
gnomAD
CA7673153
rs375197205
211 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs780024822
CA7673155
212 V>A No ClinGen
ExAC
gnomAD
CA7673154
rs756021527
212 V>M No ClinGen
ExAC
gnomAD
rs201845851
CA7673157
215 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7673158
rs774532797
217 D>N No ClinGen
ExAC
gnomAD
TCGA novel 219 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673185
rs760082559
219 Y>C No ClinGen
ExAC
gnomAD
CA7673187
rs373335165
220 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7673190
rs750081808
226 E>K No ClinGen
ExAC
gnomAD
TCGA novel 228 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673191
rs760155139
230 V>I No ClinGen
ExAC
gnomAD
rs765824878
CA393632844
234 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA7673193
rs761300568
235 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201795006
CA7673194
236 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs752520367
CA7673196
239 V>F No ClinGen
ExAC
gnomAD
rs778038275
CA7673198
240 I>L No ClinGen
ExAC
gnomAD
rs1339634194
CA393632888
241 Q>R No ClinGen
gnomAD
CA273442175
rs942023218
242 D>N No ClinGen
TOPMed
gnomAD
CA393632893
rs942023218
242 D>Y No ClinGen
TOPMed
gnomAD
rs769321159
CA273442182
243 E>K No ClinGen
Ensembl
CA7673200
rs771311818
244 Q>R No ClinGen
ExAC
gnomAD
CA7673201
rs781358139
245 L>M No ClinGen
ExAC
gnomAD
TCGA novel 246 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA273442209
rs912498287
248 L>M No ClinGen
Ensembl
CA393632937
rs1596153556
249 T>A No ClinGen
Ensembl
CA393632940
rs772544145
249 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs772544145
CA7673203
249 T>M No ClinGen
ExAC
TOPMed
gnomAD
CA7673205
rs763347104
250 Q>H No ClinGen
ExAC
gnomAD
rs373481496
CA7673206
255 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 255 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA393632982
rs1275777688
255 Q>R No ClinGen
TOPMed
CA7673207
rs774799142
256 G>E No ClinGen
ExAC
gnomAD
CA273453541
rs745773664
258 E>D No ClinGen
Ensembl
CA7673241
rs755381660
259 I>V No ClinGen
ExAC
gnomAD
rs1038205774
CA273453545
260 R>P No ClinGen
TOPMed
gnomAD
TCGA novel 260 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673242
rs779450021
263 R>C No ClinGen
ExAC
gnomAD
TCGA novel 265 H>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA273453581
rs919752806
267 A>V No ClinGen
TOPMed
rs1288911821
CA393633370
268 Q>H No ClinGen
gnomAD
rs748503664
CA7673244
269 Q>R No ClinGen
ExAC
rs368640787
CA7673246
270 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 272 D>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1259012618
CA393633394
272 D>A No ClinGen
gnomAD
CA7673247
rs745484675
272 D>E No ClinGen
ExAC
TOPMed
gnomAD
CA393633403
rs1399003093
274 A>T No ClinGen
gnomAD
CA273453627
rs912590842
275 A>T No ClinGen
gnomAD
rs1319355096
CA393633413
275 A>V No ClinGen
TOPMed
gnomAD
rs763933915
CA7673252
276 E>* No ClinGen
ExAC
gnomAD
rs763933915
CA7673251
276 E>Q No ClinGen
ExAC
gnomAD
TCGA novel 277 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1045062045
CA273453714
278 E>K No ClinGen
TOPMed
rs1473851164
CA393633433
279 A>T No ClinGen
gnomAD
rs1179453474
CA393633444
280 A>V No ClinGen
gnomAD
CA393633449
rs1455067941
281 L>R No ClinGen
TOPMed
rs756222990
CA7673256
281 L>V No ClinGen
ExAC
gnomAD
rs753844829
CA7673258
282 Q>E No ClinGen
ExAC
gnomAD
CA393633453
rs1423841610
282 Q>R No ClinGen
TOPMed
gnomAD
rs755147854
CA7673260
283 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA7673259
rs755147854
283 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs758938634
CA7673263
284 P>A No ClinGen
ExAC
gnomAD
CA393633461
rs758938634
284 P>S No ClinGen
ExAC
gnomAD
CA7673262
rs758938634
284 P>T No ClinGen
ExAC
gnomAD
rs1205460544
CA393633466
285 H>D No ClinGen
TOPMed
CA7673265
rs747418266
285 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA393633472
rs1596167651
286 V>M No ClinGen
Ensembl
CA393633479
rs775280219
287 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA7673266
rs775280219
287 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs748716750
CA7673267
288 S>R No ClinGen
ExAC
gnomAD
rs768333397
CA273453814
290 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA7673268
rs768333397
290 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA393633500
rs1596167673
290 P>T No ClinGen
Ensembl
rs1275770438
CA393633510
292 S>C No ClinGen
gnomAD
CA393633512
rs1258701126
292 S>I No ClinGen
gnomAD
rs1596167697
CA393633518
293 R>C No ClinGen
Ensembl
CA7673269
rs774022859
295 K>E No ClinGen
ExAC
gnomAD
rs931356692
CA273453824
295 K>R No ClinGen
TOPMed
gnomAD
rs1189010322
CA393633536
296 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA393633546
rs1445679423
297 L>W No ClinGen
gnomAD
CA393633549
rs1443602655
298 E>K No ClinGen
gnomAD
CA393633564
rs1169026227
300 G>R No ClinGen
gnomAD
rs1169026227
CA393633563
300 G>S No ClinGen
gnomAD
CA393633571
rs1375270266
301 T>A No ClinGen
TOPMed
rs186450715
CA7673271
301 T>M No ClinGen
1000Genomes
ExAC
gnomAD
CA393633589
rs1297551782
303 D>E No ClinGen
TOPMed
gnomAD
rs1427527594
CA393633583
303 D>N No ClinGen
TOPMed
gnomAD
CA393633612
rs1175585508
306 T>M No ClinGen
TOPMed
rs760576380
CA393633616
307 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs1363664433
CA393633613
307 A>T No ClinGen
TOPMed
rs760576380
CA7673273
307 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA393633619
rs1380918095
308 A>P No ClinGen
TOPMed
gnomAD
CA393633620
rs1380918095
308 A>T No ClinGen
TOPMed
gnomAD
CA273453878
rs1012861884
308 A>V No ClinGen
TOPMed
gnomAD
CA273453896
rs907094360
310 S>R No ClinGen
Ensembl
CA393633640
rs1255025951
311 V>I No ClinGen
TOPMed
CA393633649
rs1212393768
312 V>A No ClinGen
TOPMed
CA393633658
rs1225630843
314 E>K No ClinGen
gnomAD
CA393633679
rs1251306158
317 P>T No ClinGen
TOPMed
gnomAD
CA7673274
rs534350468
320 E>K No ClinGen
1000Genomes
ExAC
gnomAD
CA7673288
rs772121084
321 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA7673289
rs773264443
322 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs77972713
CA273672628
323 M>L No ClinGen
Ensembl
rs201419583
CA7673291
324 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs376055659
CA7673293
326 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs545690986
CA7673294
327 M>T No ClinGen
1000Genomes
ExAC
gnomAD
rs1469362051
CA393508142
327 M>V No ClinGen
TOPMed
gnomAD
CA7673295
rs62030189
329 S>G No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393508168
rs1400969255
330 Y>C No ClinGen
TOPMed
rs1368776322
CA393508176
331 I>S No ClinGen
gnomAD
TCGA novel 331 I>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA273672644
rs940684944
331 I>V No ClinGen
TOPMed
CA393508191
rs1345428748
333 Q>H No ClinGen
TOPMed
gnomAD
CA7673297
rs780582555
333 Q>R No ClinGen
ExAC
gnomAD
rs1445937923
CA393508206
335 Y>C No ClinGen
TOPMed
rs1228534096
CA393508213
336 N>S No ClinGen
gnomAD
CA393508244
rs752158649
340 S>R No ClinGen
ExAC
gnomAD
rs906445212
CA273673602
342 S>N No ClinGen
TOPMed
rs199679215
CA273673605
342 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7673331
rs201840892
343 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745636326
CA7673332
344 V>I No ClinGen
ExAC
gnomAD
TCGA novel 345 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1238435717
CA393508289
346 E>Q No ClinGen
TOPMed
CA273673634
rs746513572
347 P>Q No ClinGen
Ensembl
rs565357087
CA393508305
348 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA7673333
rs565357087
348 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 350 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673335
rs749473065
351 M>I No ClinGen
ExAC
gnomAD
rs775287535
CA7673334
351 M>T No ClinGen
ExAC
gnomAD
CA393508321
rs1384591676
351 M>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1361943684
CA393508332
352 V>G No ClinGen
gnomAD
rs1342622016
CA393508334
353 T>A No ClinGen
gnomAD
rs1405873500
CA393508337
353 T>S No ClinGen
TOPMed
rs1230255649
CA393508340
354 T>A No ClinGen
TOPMed
gnomAD
CA7673336
rs542868398
354 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs1230255649
CA393508339
354 T>P No ClinGen
TOPMed
gnomAD
rs1438550888
CA393508348
355 A>G No ClinGen
TOPMed
rs556150508
CA273673666
356 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA273673669
rs201833387
357 I>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201833387
COSM701816
CA7673341
357 I>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs532604457
CA7673340
357 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766796985
CA7673342
358 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA7673343
rs144785138
359 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1170006208
CA393508367
359 I>V No ClinGen
gnomAD
CA7673346
rs200903166
360 H>P No ClinGen
1000Genomes
ExAC
gnomAD
CA7673345
rs200903166
360 H>R No ClinGen
1000Genomes
ExAC
gnomAD
CA7673344
rs758000358
360 H>Y No ClinGen
ExAC
gnomAD
rs373557591
CA7673347
362 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1045857460
CA273673701
363 N>H No ClinGen
TOPMed
gnomAD
CA393508409
rs1365465747
365 S>F No ClinGen
gnomAD
CA393508405
rs1335677367
365 S>P No ClinGen
gnomAD
CA7673350
rs148570844
366 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393508418
rs1219771804
367 D>A No ClinGen
gnomAD
CA273673724
rs141364961
368 L>F No ClinGen
1000Genomes
gnomAD
rs141364961
CA393508424
368 L>V No ClinGen
1000Genomes
gnomAD
rs1360468378
CA393508428
369 F>L No ClinGen
TOPMed
CA393508437
rs1334482768
370 S>A No ClinGen
TOPMed
rs768908339
CA7673354
371 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs749093260
CA7673353
371 L>V No ClinGen
ExAC
gnomAD
rs1195846111
CA393508454
373 M>V No ClinGen
gnomAD
CA7673355
rs779070135
374 P>T No ClinGen
ExAC
TOPMed
gnomAD
rs1159960383
CA393508469
375 L>F No ClinGen
TOPMed
CA393508486
rs1431995921
377 L>R No ClinGen
gnomAD
CA7673358
rs370901685
378 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1193276787
CA393508494
379 G>D No ClinGen
TOPMed
CA7673360
rs199852426
379 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs376932946
CA7673362
384 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7673363
rs763774429
384 A>V No ClinGen
ExAC
gnomAD
rs371381699
CA7673364
385 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs371381699
CA7673365
385 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393508529
rs1596178218
385 T>P No ClinGen
Ensembl
CA393508535
rs141978373
386 S>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7673367
rs141978373
386 S>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7673366
rs766975266
386 S>P No ClinGen
ExAC
gnomAD
CA393508543
rs1337991378
387 E>D No ClinGen
TOPMed
CA393508541
rs1398960267
387 E>G No ClinGen
TOPMed
CA7673370
rs753624101
388 S>G No ClinGen
ExAC
gnomAD
CA393508551
rs1446787619
388 S>R No ClinGen
gnomAD
CA393508553
rs1299432851
389 A>P No ClinGen
TOPMed
CA7673371
rs201746326
391 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7673372
VAR_026880
rs937732
391 R>H No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs937732
CA393508566
391 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1198113887
CA393508569
392 S>G No ClinGen
gnomAD
CA273673819
rs986003816
393 S>* No ClinGen
Ensembl
rs1470851793
CA393508592
395 T>I No ClinGen
gnomAD
CA393508587
rs1596178303
395 T>P No ClinGen
Ensembl
rs965832770
CA273673822
396 R>Q No ClinGen
TOPMed
gnomAD
rs777931400
CA7673375
396 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA393508596
rs1194396801
397 A>T No ClinGen
TOPMed
CA273673830
rs971975411
397 A>V No ClinGen
gnomAD
CA393508615
rs1596178337
399 S>R No ClinGen
Ensembl
rs1245475315
CA393508626
401 S>G No ClinGen
TOPMed
rs1304720477
CA393508631
401 S>R No ClinGen
gnomAD
rs201057411
CA393508652
404 T>K No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201057411
CA7673376
404 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA7673379
rs759926541
405 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs777320679
CA7673378
405 L>V No ClinGen
ExAC
gnomAD
CA393508665
rs1241186519
407 S>A No ClinGen
gnomAD
rs761306701
CA7673382
409 M>T No ClinGen
ExAC
TOPMed
CA393508675
rs1315608451
409 M>V No ClinGen
TOPMed
rs767171611
CA7673383
410 D>E No ClinGen
ExAC
gnomAD
CA7673384
rs143570529
411 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA273673860
rs937888304
411 C>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7673385
rs760243011
412 S>R No ClinGen
ExAC
gnomAD
rs1251800762
CA393508701
412 S>R No ClinGen
gnomAD
CA393508699
rs1222431601
412 S>T No ClinGen
gnomAD
CA919593240
rs1567188587
413 T>M No ClinGen
Ensembl
CA393508703
rs1596178431
413 T>P No ClinGen
Ensembl
rs754961645
CA7673388
415 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA7673389
rs373954795
415 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373954795
CA7673390
415 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA393508717
rs373954795
415 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1045911513
CA273673892
416 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA7673395
rs368467428
418 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776253667
CA7673397
420 S>A No ClinGen
ExAC
gnomAD
CA393508747
rs1193010394
420 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1335439213
CA393508749
421 E>K No ClinGen
TOPMed
gnomAD
rs1459415817
CA393508758
422 P>A No ClinGen
TOPMed
CA393508764
rs749721963
423 G>C No ClinGen
ExAC
TOPMed
gnomAD
rs749721963
CA393508763
423 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA7673402
rs749721963
423 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA7673403
rs771706401
424 P>H No ClinGen
ExAC
gnomAD
CA7673404
rs772888949
425 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA393508779
rs1446693143
426 P>S No ClinGen
TOPMed
gnomAD
rs937733
VAR_026881
CA7673406
427 P>L No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1179041367
CA619415622
427 P>R No ClinGen
gnomAD
rs937733
CA7673407
427 P>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765232679
CA7673409
428 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs765232679
CA393508792
428 P>R No ClinGen
ExAC
TOPMed
gnomAD
COSM3401937
CA393508800
rs1185061892
430 P>S central_nervous_system Variant assessed as Somatic; 4.665e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA273673947
rs893366145
431 S>P No ClinGen
Ensembl
CA393508812
rs1240806259
432 Q>P No ClinGen
TOPMed
gnomAD
CA7673411
rs758310240
434 Q>* No ClinGen
ExAC
gnomAD
CA273673959
rs751784075
434 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs764391009
CA7673412
434 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA273673963
rs1028741213
435 V>A No ClinGen
Ensembl
rs1460373618
CA393508831
435 V>M No ClinGen
gnomAD
rs1567188745
CA393508835
436 E>K No ClinGen
Ensembl
rs371561578
CA7673415
437 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs757584641
CA7673414
437 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs745917005
CA7673416
438 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs745917005
CA393508849
438 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs965884640
CA273673973
441 Q>* No ClinGen
TOPMed
gnomAD
rs145543210
CA7673418
441 Q>R No ClinGen
ESP
ExAC
CA393508883
rs749618248
443 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA7673419
rs749618248
443 L>R No ClinGen
ExAC
TOPMed
gnomAD
CA7673422
rs368038771
COSM380889
448 S>L lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs368038771
CA7673423
448 S>W No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7673425
rs759141753
449 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA393508911
rs1240946980
449 E>K No ClinGen
gnomAD
rs775548031
CA7673428
451 P>L No ClinGen
ExAC
gnomAD
rs775548031
CA7673427
451 P>R No ClinGen
ExAC
gnomAD
CA7673426
rs765056522
451 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs148877983
CA7673430
452 C>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7673432
rs767841400
453 P>A No ClinGen
ExAC
gnomAD
rs1404251068
CA393508948
455 Q>* No ClinGen
gnomAD
CA273674013
rs969661650
455 Q>R No ClinGen
Ensembl
rs756255064
CA7673434
456 K>E No ClinGen
ExAC
gnomAD
CA7673435
rs145161130
456 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs915148113
CA273674020
457 A>P No ClinGen
TOPMed
CA273674029
rs928359695
457 A>V No ClinGen
Ensembl
rs779182339
CA393508994
458 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs755505555
CA7673437
458 L>S No ClinGen
ExAC
TOPMed
gnomAD
rs748524275
CA7673439
459 D>H No ClinGen
ExAC
gnomAD
CA393509049
rs543853072
461 A>G No ClinGen
1000Genomes
TOPMed
gnomAD
CA393509046
rs1260669140
461 A>S No ClinGen
TOPMed
gnomAD
rs543853072
CA273674038
461 A>V No ClinGen
1000Genomes
TOPMed
gnomAD
CA393509051
COSM361810
rs1262063774
462 P>A lung [Cosmic] No ClinGen
cosmic curated
gnomAD
rs1484773682
CA393509055
462 P>H No ClinGen
TOPMed
gnomAD
CA7673443
rs375411507
463 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375411507
CA273674057
463 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393509068
rs1596178849
463 L>P No ClinGen
Ensembl
CA7673442
rs375411507
463 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1481366012
CA393509073
464 A>T No ClinGen
TOPMed
gnomAD
CA273674066
rs774278839
465 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA7673449
rs774278839
465 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA7673447
rs762917837
465 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1347174585
CA393509110
466 P>H No ClinGen
gnomAD
CA7673452
rs1555454138
467 S>R No ClinGen
Ensembl
CA393509126
rs1163254527
467 S>T No ClinGen
TOPMed
CA273674080
rs1041161642
468 P>L No ClinGen
gnomAD
CA7673455
rs565252084
469 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA393509144
rs1567188958
470 G>S No ClinGen
Ensembl
rs147646086
CA7673457
471 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1262040134
CA393509201
475 S>R No ClinGen
TOPMed
rs755419801
CA7673461
475 S>R No ClinGen
ExAC
gnomAD
rs200554943
CA273674093
476 P>T No ClinGen
1000Genomes
CA7673464
rs758847948
477 E>* No ClinGen
ExAC
gnomAD
rs758847948
CA7673466
477 E>K No ClinGen
ExAC
gnomAD
rs758847948
CA7673465
477 E>Q No ClinGen
ExAC
gnomAD
rs1220196245
CA393509225
479 E>G No ClinGen
TOPMed
gnomAD
CA7673469
rs142307813
480 H>R No ClinGen
ESP
ExAC
rs1262308413
CA393509238
480 H>Y No ClinGen
TOPMed
CA393509255
rs1488233570
481 R>G No ClinGen
gnomAD
rs952030565
CA393509261
481 R>K No ClinGen
TOPMed
CA273674155
rs952030565
481 R>T No ClinGen
TOPMed
CA393509293
rs748868524
483 S>I No ClinGen
ExAC
TOPMed
gnomAD
rs748868524
CA393509296
483 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA7673470
rs748868524
483 S>T No ClinGen
ExAC
TOPMed
gnomAD
rs746862201
CA273674174
484 L>P No ClinGen
TOPMed
rs1596179042
CA393509345
485 F>L No ClinGen
Ensembl
CA393509333
rs1417521338
485 F>V No ClinGen
TOPMed
gnomAD
CA7673473
rs371899674
486 N>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA7673474
rs761488660
488 K>N No ClinGen
ExAC
CA7673476
rs772908199
490 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs771848584
CA7673475
490 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1022858116
CA273674198
494 T>I No ClinGen
TOPMed
CA7673478
rs760880166
494 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs760880166
CA393509475
494 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 496 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs969709170
CA273674201
496 F>L No ClinGen
gnomAD
CA7673479
rs766523878
497 Q>* No ClinGen
ExAC
gnomAD
rs981061103
CA273674204
498 I>S No ClinGen
gnomAD
CA7673480
rs776679000
499 R>S No ClinGen
ExAC
gnomAD
CA273674205
rs145747266
499 R>T No ClinGen
ESP
CA7673481
rs759678524
500 P>S No ClinGen
ExAC
gnomAD
rs765700338
CA7673482
502 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA273674223
rs1003226137
504 F>C No ClinGen
TOPMed
gnomAD
rs148206905
CA7673483
504 F>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA393509624
rs1307977748
505 Q>* No ClinGen
gnomAD
TCGA novel 507 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA7673486
rs751884312
508 V>G No ClinGen
ExAC
gnomAD
CA393509668
rs1234698773
508 V>L No ClinGen
TOPMed
gnomAD
rs1034716339
CA273674249
509 P>S No ClinGen
TOPMed
rs955789282
CA273674256
510 M>T No ClinGen
Ensembl
rs1243915686
CA393509706
511 L>R No ClinGen
gnomAD
rs755781988
CA7673488
512 E>D No ClinGen
ExAC
gnomAD
CA7673489
rs779923079
514 K>* No ClinGen
ExAC
gnomAD
CA393509757
rs1413751828
515 F>I No ClinGen
TOPMed
gnomAD
rs376333952
CA393509775
516 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1352290788
CA393509780
516 R>T No ClinGen
gnomAD
CA7673492
rs778584893
519 E>G No ClinGen
ExAC
gnomAD
CA7673493
rs748075707
520 S>Y No ClinGen
ExAC
gnomAD
CA393509850
rs1450238917
522 E>K No ClinGen
TOPMed
gnomAD
rs773001964
CA7673495
523 Q>E No ClinGen
ExAC
TOPMed
gnomAD
CA7673497
rs771136340
524 K>* No ClinGen
ExAC
gnomAD
CA7673498
rs776876074
525 L>P No ClinGen
ExAC
gnomAD
CA7673499
rs776876074
525 L>Q No ClinGen
ExAC
gnomAD
CA393509876
rs1305851934
526 H>Y No ClinGen
gnomAD
CA7673500
rs765262559
527 R>K No ClinGen
ExAC
gnomAD

No associated diseases with Q2M3C6

No regional properties for Q2M3C6

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q2M3C6

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
  • Cell projection, dendrite
  • Perikaryon
  • Present in the dendrites and soma of cerebellar granule neurons, but not in their axon
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
dendrite A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
perikaryon The portion of the cell soma (neuronal cell body) that excludes the nucleus.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name Definition
protein homodimerization activity Binding to an identical protein to form a homodimer.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MAVAPSFNMT NPQPAIEGGI SEVEIISQQV DEETKSIAPV QLVNFAYRDL PLAAVDLSTA
70 80 90 100 110 120
GSQLLSNLDE DYQREGSNWL KPCCGKRAAV WQVFLLSASL NSFLVACVIL VVILLTLELL
130 140 150 160 170 180
IDIKLLQFSS AFQFAGVIHW ISLVILSVFF SETVLRIVVL GIWDYIENKI EVFDGAVIIL
190 200 210 220 230 240
SLAPMVASTV ANGPRSPWDA ISLIIMLRIW RVKRVIDAYV LPVKLEMEMV IQQYEKAKVI
250 260 270 280 290 300
QDEQLERLTQ ICQEQGFEIR QLRAHLAQQD LDLAAEREAA LQAPHVLSQP RSRFKVLEAG
310 320 330 340 350 360
TWDEETAAES VVEELQPSQE ATMKDDMNSY ISQYYNGPSS DSGVPEPAVC MVTTAAIDIH
370 380 390 400 410 420
QPNISSDLFS LDMPLKLGGN GTSATSESAS RSSVTRAQSD SSQTLGSSMD CSTAREEPSS
430 440 450 460 470 480
EPGPSPPPLP SQQQVEEATV QDLLSSLSED PCPSQKALDP APLARPSPAG SAQTSPELEH
490 500 510 520 530
RVSLFNQKNQ EGFTVFQIRP VIHFQPTVPM LEDKFRSLES KEQKLHRVPE A