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 Q75VX8

Entry ID Method Resolution Chain Position Source
AF-Q75VX8-F1 Predicted AlphaFoldDB

645 variants for Q75VX8

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1574582219
CA346094004
4 L>P No ClinGen
Ensembl
rs1278103419
CA346094011
5 A>V No ClinGen
TOPMed
TCGA novel 6 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1201262494
CA346094025
8 L>V No ClinGen
TOPMed
rs1297518864
CA346094034
9 A>G No ClinGen
TOPMed
gnomAD
CA1559095
rs549444788
12 R>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1341728395
CA346094059
13 W>C No ClinGen
TOPMed
rs749477554
CA1559096
14 S>C No ClinGen
ExAC
gnomAD
CA346094071
rs1390080608
15 M>T No ClinGen
gnomAD
CA346094068
rs1272452827
15 M>V No ClinGen
TOPMed
CA346094082
rs1432238230
17 A>T No ClinGen
TOPMed
rs1202467038
CA346094158
23 I>M No ClinGen
TOPMed
gnomAD
rs1240663261
CA346094163
24 V>I No ClinGen
gnomAD
TCGA novel 29 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44356780
rs999565161
30 P>L No ClinGen
TOPMed
rs1260980168
CA346094223
31 T>M No ClinGen
TOPMed
gnomAD
rs1296587521
CA346094228
32 L>F No ClinGen
gnomAD
CA346094843
rs1289970060
38 G>E No ClinGen
gnomAD
CA346094876
rs1403512285
39 E>G No ClinGen
gnomAD
CA346094894
rs1347047713
40 Y>C No ClinGen
TOPMed
gnomAD
CA44363028
rs878911763
40 Y>H No ClinGen
TOPMed
CA346094892
rs1347047713
40 Y>S No ClinGen
TOPMed
gnomAD
CA346094910
rs1038445659
41 A>D No ClinGen
gnomAD
rs777501978
CA1559107
41 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA44363037
rs1038445659
41 A>V No ClinGen
gnomAD
rs1490111697
CA346094928
42 E>D No ClinGen
gnomAD
COSM3839199
rs772698775
CA1559109
42 E>K breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs772698775
CA346094921
42 E>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1227844290
CA346094945
43 G>A No ClinGen
TOPMed
rs1271280269
CA346094948
44 V>I No ClinGen
TOPMed
gnomAD
CA346094975
rs1480919221
45 S>R No ClinGen
gnomAD
CA1559111
rs563491136
47 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346095045
rs1420985856
49 I>L No ClinGen
gnomAD
CA44363055
rs890942672
54 S>P No ClinGen
Ensembl
rs138312040
CA44363060
56 R>Q No ClinGen
1000Genomes
TOPMed
gnomAD
CA1559112
rs751459214
56 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs1454509706
CA346095210
58 W>* No ClinGen
gnomAD
CA346095256
rs1436683521
COSM3695426
60 T>M large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1558304193
CA346095317
64 H>Y No ClinGen
Ensembl
rs1224992666
CA346095348
66 L>M No ClinGen
gnomAD
rs1358694150
CA346095384
67 E>D No ClinGen
TOPMed
gnomAD
CA346095378
rs1309862584
67 E>G No ClinGen
gnomAD
CA346095505
rs1487277203
74 G>R No ClinGen
TOPMed
rs1052791678
CA44363076
83 Y>F No ClinGen
TOPMed
CA346095749
rs1481644500
84 P>Q No ClinGen
gnomAD
CA346095743
rs528463260
84 P>S No ClinGen
1000Genomes
gnomAD
rs528463260
CA44363086
84 P>T No ClinGen
1000Genomes
gnomAD
CA346095756
rs1177889514
85 G>W No ClinGen
gnomAD
CA346096380
rs1478371078
86 K>T No ClinGen
gnomAD
rs988823949
CA44368902
90 L>P No ClinGen
Ensembl
CA346096431
rs1574590711
91 E>Q No ClinGen
Ensembl
rs1293600654
CA346096454
92 Q>H No ClinGen
TOPMed
rs1428221762
CA346096463
93 A>S No ClinGen
gnomAD
TCGA novel 93 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1479151031
CA346096469
94 R>G No ClinGen
gnomAD
rs914662894
CA44368920
94 R>Q No ClinGen
TOPMed
gnomAD
CA346096510
rs1402802266
96 V>G No ClinGen
gnomAD
CA1559131
rs199966839
97 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA44368952
rs752522463
97 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA1559133
rs752522463
97 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA1559132
rs199966839
97 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA346096571
rs1400410682
102 Y>C No ClinGen
gnomAD
rs1457460640
CA346096580
103 F>L No ClinGen
TOPMed
CA346096625
rs760434286
106 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs760434286
CA1559134
106 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1268049171
CA346096660
108 E>V No ClinGen
TOPMed
CA346096671
rs1192867884
109 V>A No ClinGen
TOPMed
CA346096678
rs1225424904
110 A>T No ClinGen
gnomAD
rs1275576171
CA346097134
111 S>G No ClinGen
gnomAD
CA346097169
rs1350048895
116 R>C No ClinGen
gnomAD
CA44368971
rs938967680
116 R>H No ClinGen
TOPMed
gnomAD
rs1286979796
CA346097177
117 I>N No ClinGen
TOPMed
gnomAD
CA346097189
rs1222263905
119 V>M No ClinGen
TOPMed
gnomAD
rs1267724192
CA346097197
120 M>L No ClinGen
gnomAD
TCGA novel 121 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1489751107
CA346097212
122 A>T No ClinGen
gnomAD
rs1261625535
CA346097244
126 S>N No ClinGen
TOPMed
COSM442700
CA1559136
rs750630201
127 V>I breast [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs750630201
CA346097247
127 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1156695391
CA346097258
128 K>N No ClinGen
gnomAD
rs1381053510
CA346097252
128 K>Q No ClinGen
TOPMed
rs576494766
CA44369661
131 S>* No ClinGen
TOPMed
gnomAD
rs576494766
CA44369664
131 S>L No ClinGen
TOPMed
gnomAD
rs1164027226
CA346097284
131 S>P No ClinGen
gnomAD
rs748881725
CA1559145
132 G>S No ClinGen
ExAC
gnomAD
rs1452459446
CA346097298
133 E>D No ClinGen
gnomAD
rs116239749
CA1559148
135 S>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA1559150
rs772020611
137 D>V No ClinGen
ExAC
gnomAD
CA1559149
rs368066026
137 D>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1193557342
CA346097347
140 V>M No ClinGen
gnomAD
rs1259368371
CA346097371
143 F>S No ClinGen
TOPMed
gnomAD
CA346097376
rs1348171656
144 T>A No ClinGen
gnomAD
rs1209604243
CA346097385
145 L>P No ClinGen
TOPMed
CA346097389
rs1466498708
146 H>P No ClinGen
TOPMed
rs1457827245
CA346097399
147 A>V No ClinGen
gnomAD
rs1254654758
CA346097415
150 E>Q No ClinGen
TOPMed
rs962877666
CA44369756
153 L>P No ClinGen
TOPMed
gnomAD
CA1559152
rs775325747
156 Q>H No ClinGen
ExAC
gnomAD
CA346097516
rs1425303330
157 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA346097523
rs1188077014
158 E>G No ClinGen
gnomAD
CA346097570
rs1372701384
162 A>T No ClinGen
gnomAD
rs1313364081
CA346097591
163 K>N No ClinGen
TOPMed
CA1559153
rs760689199
164 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1401077480
CA346097619
165 T>I No ClinGen
gnomAD
CA1559154
rs373713812
166 K>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1278472082
CA346097648
168 R>C No ClinGen
TOPMed
gnomAD
CA44369785
rs750492371
168 R>H No ClinGen
Ensembl
rs573231617
CA1559155
172 T>S No ClinGen
1000Genomes
ExAC
gnomAD
rs763267858
CA346097767
180 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs763267858
CA1559156
180 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1359733227
CA346097775
181 A>T No ClinGen
TOPMed
CA44369802
rs937687152
CA346097783
182 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 182 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346097815
rs1325065794
185 A>T No ClinGen
gnomAD
CA346097823
rs1224705899
185 A>V No ClinGen
gnomAD
CA346097825
CA346097826
rs1279720559
186 G>R No ClinGen
TOPMed
gnomAD
CA346097828
rs1279720559
186 G>W No ClinGen
TOPMed
gnomAD
CA346097844
rs1317968862
187 V>M No ClinGen
gnomAD
CA346097850
rs1261172807
188 G>R No ClinGen
gnomAD
rs1200973903
CA346097910
191 G>D No ClinGen
gnomAD
rs866323379
CA44369807
191 G>S No ClinGen
gnomAD
rs1196058524
CA346097943
194 S>G No ClinGen
TOPMed
gnomAD
TCGA novel 194 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346097954
rs1480135455
194 S>R No ClinGen
gnomAD
CA346097946
rs1424671558
194 S>T No ClinGen
gnomAD
CA346097977
rs1174456218
196 G>V No ClinGen
gnomAD
rs1056131973
CA346097986
197 A>P No ClinGen
TOPMed
gnomAD
CA346097987
rs1056131973
197 A>S No ClinGen
TOPMed
gnomAD
CA44369809
rs1056131973
197 A>T No ClinGen
TOPMed
gnomAD
rs1190708933
CA346098082
204 G>E No ClinGen
gnomAD
CA346098079
rs1383208633
CA346098080
204 G>R No ClinGen
TOPMed
gnomAD
rs1327898048
CA346098091
205 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs751639975
CA346098095
206 A>P No ClinGen
ExAC
TOPMed
gnomAD
CA1559158
rs751639975
206 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1402655376
CA346098117
208 P>L No ClinGen
TOPMed
TCGA novel 208 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44369821
rs1042097468
208 P>S No ClinGen
TOPMed
gnomAD
CA346098141
rs1340816490
211 G>A No ClinGen
TOPMed
gnomAD
CA346098139
rs1340816490
211 G>D No ClinGen
TOPMed
gnomAD
TCGA novel 213 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44369843
rs574826604
220 N>K No ClinGen
1000Genomes
rs1169351698
CA346098234
224 N>S No ClinGen
TOPMed
rs1429055635
CA346098259
228 S>R No ClinGen
TOPMed
gnomAD
rs936499681
CA44369851
231 F>S No ClinGen
TOPMed
TCGA novel 233 C>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1273274722
CA346098364
242 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA346098371
rs1427280131
244 E>K No ClinGen
gnomAD
rs778045444
CA1559163
245 L>V No ClinGen
ExAC
gnomAD
CA44369889
rs866778702
248 Q>E No ClinGen
Ensembl
CA346098406
rs1158989009
248 Q>H No ClinGen
TOPMed
gnomAD
CA346098416
rs1428704370
250 G>R No ClinGen
gnomAD
CA346098423
rs1340794860
251 E>K No ClinGen
TOPMed
TCGA novel 255 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44369949
rs865816282
257 I>T No ClinGen
Ensembl
CA44369958
rs12987199
258 I>F No ClinGen
Ensembl
CA44369967
rs12992439
258 I>N No ClinGen
gnomAD
CA346098469
rs12992439
258 I>T No ClinGen
gnomAD
rs891090595
CA44369987
259 E>Q No ClinGen
TOPMed
CA44369994
rs868073538
260 R>S No ClinGen
Ensembl
CA346098484
rs1407889991
261 V>M No ClinGen
TOPMed
rs749718476
CA1559164
262 R>T No ClinGen
ExAC
gnomAD
CA346098506
rs1365350461
264 P>L No ClinGen
gnomAD
CA346098505
rs1365350461
264 P>R No ClinGen
gnomAD
rs1308574095
CA346098522
267 V>L No ClinGen
TOPMed
CA44370015
rs13011490
268 L>V No ClinGen
gnomAD
rs1388706370
CA346098532
269 V>L No ClinGen
TOPMed
CA346098537
rs1162840318
270 P>T No ClinGen
TOPMed
rs1458646062
CA346098544
271 S>C No ClinGen
TOPMed
rs1291459324
CA346098553
272 R>Q No ClinGen
gnomAD
CA346098562
rs1369033134
273 P>L No ClinGen
gnomAD
CA346098571
rs1306166419
274 P>R No ClinGen
gnomAD
CA346098598
rs1253095445
277 P>S No ClinGen
TOPMed
rs963244694
CA44370020
278 Y>H No ClinGen
TOPMed
CA346098645
rs1574592443
282 P>L No ClinGen
Ensembl
CA1559167
rs745349822
283 V>M No ClinGen
ExAC
gnomAD
rs1208850105
CA346098674
287 H>Y No ClinGen
TOPMed
TCGA novel 288 C>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1176755737
CA346098725
293 S>G No ClinGen
TOPMed
gnomAD
rs771439596
CA1559168
295 I>F No ClinGen
ExAC
gnomAD
rs1442024787
CA346098782
297 K>R No ClinGen
gnomAD
rs1159784683
CA346098791
298 T>M No ClinGen
gnomAD
CA346098800
rs1328229672
299 V>A No ClinGen
TOPMed
CA346098792
rs1363197244
299 V>M No ClinGen
TOPMed
gnomAD
rs1288864440
CA346098812
300 V>A No ClinGen
TOPMed
CA346098821
rs1423150633
301 L>P No ClinGen
gnomAD
CA346098829
rs1351301556
302 G>R No ClinGen
gnomAD
rs1444321240
CA346098835
302 G>V No ClinGen
TOPMed
rs1231328954
CA346098848
304 A>T No ClinGen
TOPMed
gnomAD
rs1323014893
CA346098881
307 R>G No ClinGen
TOPMed
rs1387558228
CA346098889
307 R>L No ClinGen
TOPMed
CA1559169
rs775083409
310 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA346098926
rs775083409
310 P>Q No ClinGen
ExAC
TOPMed
gnomAD
CA44370085
rs1033962931
311 A>T No ClinGen
TOPMed
gnomAD
CA346098935
rs1309925593
311 A>V No ClinGen
gnomAD
CA346098963
rs1322613923
314 H>R No ClinGen
gnomAD
CA346099017
rs1375399771
318 L>P No ClinGen
TOPMed
rs1246958448
CA346099021
319 T>A No ClinGen
TOPMed
gnomAD
CA346099019
rs1246958448
319 T>P No ClinGen
TOPMed
gnomAD
CA346099059
rs1256158324
CA346099056
320 D>E No ClinGen
TOPMed
gnomAD
CA346099093
rs1179753994
323 R>H No ClinGen
TOPMed
gnomAD
rs1179753994
CA346099092
323 R>L No ClinGen
TOPMed
gnomAD
rs776557870
CA346099113
324 F>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 325 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 327 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346099166
rs1373295915
329 G>S No ClinGen
TOPMed
rs1220845225
CA346099181
330 L>Q No ClinGen
gnomAD
CA346099244
rs1397449877
335 P>L No ClinGen
gnomAD
rs751025777
CA44370111
337 V>D No ClinGen
TOPMed
gnomAD
rs1242791514
CA346099263
337 V>I No ClinGen
TOPMed
gnomAD
CA346099302
rs1445521303
339 R>C No ClinGen
TOPMed
gnomAD
CA346099307
rs1285677830
339 R>L No ClinGen
TOPMed
gnomAD
rs1445521303
CA346099296
339 R>S No ClinGen
TOPMed
gnomAD
CA346099344
rs1454301501
341 V>G No ClinGen
TOPMed
rs1379627434
CA346099350
342 R>H No ClinGen
gnomAD
rs868387397
CA44370127
344 S>R No ClinGen
Ensembl
rs867251395
CA44370133
345 A>D No ClinGen
Ensembl
rs1214160035
CA346099391
345 A>T No ClinGen
TOPMed
gnomAD
TCGA novel 346 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346099476
rs1320062874
349 R>C No ClinGen
TOPMed
gnomAD
CA346099469
rs1320062874
349 R>G No ClinGen
TOPMed
gnomAD
CA346099482
rs1190511354
349 R>P No ClinGen
TOPMed
gnomAD
CA346099522
rs1388060652
351 R>H No ClinGen
gnomAD
rs1199397284
CA346099510
351 R>S No ClinGen
TOPMed
gnomAD
rs761750999
CA1559173
354 P>S No ClinGen
ExAC
gnomAD
rs1295563845
CA346099616
357 Y>N No ClinGen
TOPMed
rs936532313
CA44370148
359 T>M No ClinGen
TOPMed
gnomAD
rs1431572654
CA346099650
359 T>S No ClinGen
Ensembl
rs1038830049
CA44370153
361 V>L No ClinGen
TOPMed
rs1475310759
CA346099697
362 R>S No ClinGen
gnomAD
TCGA novel 363 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1478513359
CA346099813
369 A>S No ClinGen
TOPMed
gnomAD
rs1478513359
CA346099811
369 A>T No ClinGen
TOPMed
gnomAD
CA44370162
rs900321796
376 R>C No ClinGen
TOPMed
TCGA novel 379 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44370164
rs933242230
380 L>P No ClinGen
TOPMed
CA44370175
rs1051654459
381 C>S No ClinGen
TOPMed
rs1051654459
CA44370171
381 C>Y No ClinGen
TOPMed
CA346099992
rs1187906751
382 L>R No ClinGen
TOPMed
rs1486637020
CA346100024
384 A>T No ClinGen
TOPMed
rs1322288831
CA346100051
387 A>V No ClinGen
gnomAD
CA346100070
rs1356063432
389 G>A No ClinGen
TOPMed
CA346100078
rs1319192255
390 L>P No ClinGen
TOPMed
gnomAD
rs1307973165
CA346100103
392 R>G No ClinGen
TOPMed
CA346100121
rs1365130602
393 A>V No ClinGen
TOPMed
gnomAD
rs545645184
CA44370196
394 P>S No ClinGen
1000Genomes
gnomAD
rs995563901
CA44370199
396 P>L No ClinGen
TOPMed
gnomAD
CA346100173
rs1228008286
398 A>P No ClinGen
TOPMed
gnomAD
CA346100172
rs1228008286
398 A>S No ClinGen
TOPMed
gnomAD
CA346100170
rs1228008286
398 A>T No ClinGen
TOPMed
gnomAD
rs1336120409
CA346100188
399 P>L No ClinGen
TOPMed
gnomAD
rs1336120409
CA346100185
399 P>Q No ClinGen
TOPMed
gnomAD
rs1412619039
CA346100182
399 P>S No ClinGen
gnomAD
rs1480971301
CA346100208
401 P>A No ClinGen
TOPMed
CA346100228
rs1219608059
402 A>S No ClinGen
TOPMed
TCGA novel 402 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1359472004
CA346100231
402 A>V No ClinGen
gnomAD
CA346100241
rs1321419301
403 G>C No ClinGen
TOPMed
CA346100253
rs1331389432
404 E>K No ClinGen
TOPMed
gnomAD
rs1327531303
CA346100296
406 D>A No ClinGen
TOPMed
CA1559176
rs759827683
406 D>H No ClinGen
ExAC
gnomAD
CA1559177
rs767438707
407 Q>E No ClinGen
ExAC
TOPMed
gnomAD
rs181971256
CA1559178
407 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346100377
rs1464415107
411 S>I No ClinGen
gnomAD
CA346100379
rs1187943947
CA346100382
411 S>R No ClinGen
TOPMed
gnomAD
CA346100392
rs1221398274
413 D>N No ClinGen
gnomAD
CA346100406
rs1279981968
414 W>* No ClinGen
gnomAD
rs1574593118
CA346100442
416 A>D No ClinGen
Ensembl
rs1462760559
CA346100449
417 A>P No ClinGen
TOPMed
CA346100468
rs1574593126
417 A>V No ClinGen
Ensembl
rs1260570859
CA346100488
419 E>K No ClinGen
TOPMed
gnomAD
rs1419637548
CA346100505
420 P>S No ClinGen
TOPMed
rs925052132
CA44370229
421 A>T No ClinGen
TOPMed
rs1376534536
CA346100534
421 A>V No ClinGen
gnomAD
rs1488205135
CA346100537
422 A>P No ClinGen
TOPMed
CA346100571
rs1174221675
424 P>L No ClinGen
TOPMed
gnomAD
CA346100593
rs1215821780
426 E>D No ClinGen
TOPMed
TCGA novel 427 I>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1558308612
CA346100598
427 I>V No ClinGen
Ensembl
TCGA novel 428 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 434 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1308508599
CA346100796
435 H>P No ClinGen
TOPMed
rs1156677834
CA346100815
436 Q>K No ClinGen
gnomAD
rs1362237325
CA346100817
436 Q>R No ClinGen
gnomAD
rs1216919109
CA346100841
437 G>E No ClinGen
TOPMed
rs757655800
CA1559182
438 P>L No ClinGen
ExAC
gnomAD
CA346100871
rs1302811436
438 P>S No ClinGen
gnomAD
CA1559183
rs779363816
443 R>Q No ClinGen
ExAC
gnomAD
CA44370256
rs754572241
443 R>W No ClinGen
TOPMed
gnomAD
CA346101049
rs1354907658
445 P>L No ClinGen
TOPMed
gnomAD
TCGA novel 446 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1266287977
CA346101096
448 L>V No ClinGen
gnomAD
CA346101120
rs4665833
449 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs962051652
CA44370286
450 L>F No ClinGen
TOPMed
rs962051652
CA346101142
450 L>V No ClinGen
TOPMed
CA346101158
rs1247204866
451 I>F No ClinGen
gnomAD
rs758078493
CA1559185
452 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA346101197
rs1254707800
453 F>L No ClinGen
TOPMed
CA346101199
rs1420104281
CA346101208
454 G>R No ClinGen
TOPMed
gnomAD
rs1163149746
CA346101232
455 A>V No ClinGen
gnomAD
CA1559186
rs779430648
456 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA346101244
rs1280468515
456 A>V No ClinGen
TOPMed
rs1324217695
CA346101247
457 G>R No ClinGen
gnomAD
rs920851960
CA346101278
458 P>L No ClinGen
TOPMed
gnomAD
rs920851960
CA44370321
458 P>R No ClinGen
TOPMed
gnomAD
CA346101274
rs1335247712
458 P>S No ClinGen
TOPMed
gnomAD
TCGA novel 460 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346101288
rs1378080353
460 R>H No ClinGen
TOPMed
gnomAD
CA346101290
rs1378080353
460 R>L No ClinGen
TOPMed
gnomAD
rs768695038
CA1559188
461 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA44370345
rs768695038
461 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA44370352
rs986739934
462 E>K No ClinGen
gnomAD
rs752502744
CA44370359
465 A>V No ClinGen
gnomAD
CA346101350
rs1456955582
466 P>S No ClinGen
TOPMed
gnomAD
rs1240003682
CA346101382
469 P>L No ClinGen
gnomAD
rs776751906
CA346101408
472 P>A No ClinGen
ExAC
gnomAD
CA1559190
rs776751906
472 P>S No ClinGen
ExAC
gnomAD
CA346101447
rs1175679674
474 S>F No ClinGen
TOPMed
CA346101449
rs1473858891
475 E>Q No ClinGen
gnomAD
CA346101465
rs1164078385
476 A>E No ClinGen
gnomAD
rs1318035339
CA346101679
482 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1232375453
CA346101682
482 R>H No ClinGen
gnomAD
rs1254223300
CA346101712
484 L>P No ClinGen
TOPMed
gnomAD
rs767845675
CA346101722
485 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA1559196
rs767845675
485 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1574594410
CA346101750
487 P>L No ClinGen
Ensembl
CA346101738
rs1262725521
487 P>S No ClinGen
TOPMed
gnomAD
CA1559197
rs564083150
488 P>A No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346101817
rs1263948942
492 R>P No ClinGen
gnomAD
rs760790718
CA1559198
492 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs930469363
CA44371234
493 G>D No ClinGen
TOPMed
gnomAD
rs930469363
CA346101831
493 G>V No ClinGen
TOPMed
gnomAD
rs1379926283
CA346101840
494 G>S No ClinGen
gnomAD
CA346101880
rs1466874870
497 S>G No ClinGen
TOPMed
gnomAD
rs1330010348
CA346101884
497 S>N No ClinGen
gnomAD
rs754300310
CA1559200
498 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA1559202
rs372552496
499 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372552496
CA1559201
499 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA44371241
rs889244412
499 R>W No ClinGen
TOPMed
gnomAD
rs1362009357
CA346101950
501 S>C No ClinGen
gnomAD
rs1040404678
CA44371253
502 S>R No ClinGen
gnomAD
CA346101954
rs1574594522
502 S>R No ClinGen
Ensembl
rs1558309399
CA346101979
503 S>I No ClinGen
Ensembl
CA346101989
rs750870583
504 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs750870583
CA1559203
504 P>S No ClinGen
ExAC
TOPMed
gnomAD
CA346102002
rs1313938649
505 P>A No ClinGen
gnomAD
CA1559204
rs757977775
505 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA346102007
rs1313938649
505 P>S No ClinGen
gnomAD
CA346102019
rs1574594585
506 V>G No ClinGen
Ensembl
TCGA novel 506 V>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs982258521
CA44371273
506 V>I No ClinGen
TOPMed
gnomAD
rs1219013626
CA346102024
507 P>S No ClinGen
gnomAD
CA346102050
COSM1407174
rs1488182873
509 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1488182873
CA346102046
509 R>G No ClinGen
TOPMed
gnomAD
rs561382152
CA1559205
509 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346102044
rs1488182873
509 R>S No ClinGen
TOPMed
gnomAD
CA346102094
rs1270082856
512 K>M No ClinGen
TOPMed
gnomAD
rs1342791036
CA346102096
512 K>N No ClinGen
TOPMed
gnomAD
CA346102093
rs1270082856
512 K>R No ClinGen
TOPMed
gnomAD
rs1378798636
CA346102126
515 P>S No ClinGen
gnomAD
CA346102138
rs1201812250
516 V>I No ClinGen
TOPMed
rs754500051
CA1559207
517 H>P No ClinGen
ExAC
rs754500051
CA44371320
517 H>R No ClinGen
ExAC
rs1053896250
CA346102174
518 S>F No ClinGen
TOPMed
gnomAD
CA346102165
rs1574594665
518 S>P No ClinGen
Ensembl
rs1053896250
CA44371328
518 S>Y No ClinGen
TOPMed
gnomAD
CA346102182
rs1291230301
519 P>H No ClinGen
gnomAD
rs1291230301
CA346102185
519 P>R No ClinGen
gnomAD
rs1456956099
CA346102180
519 P>S No ClinGen
gnomAD
rs1250425395
CA346102196
520 S>I No ClinGen
TOPMed
CA346102208
rs1369104485
521 S>F No ClinGen
TOPMed
gnomAD
rs1574594727
CA346102252
525 Y>S No ClinGen
Ensembl
CA346102278
rs1374357222
527 S>F No ClinGen
gnomAD
CA346102277
rs1374357222
527 S>Y No ClinGen
gnomAD
rs1285218455
CA346102284
528 S>P No ClinGen
gnomAD
CA1559209
rs748040879
529 G>A No ClinGen
ExAC
gnomAD
rs769776103
CA1559210
531 Q>H No ClinGen
ExAC
gnomAD
CA346103078
rs1218162289
534 A>T No ClinGen
TOPMed
gnomAD
CA346103084
rs1256700735
534 A>V No ClinGen
gnomAD
rs1205838955
CA346103091
535 G>R No ClinGen
TOPMed
gnomAD
rs1400650665
CA346103097
535 G>V No ClinGen
TOPMed
rs200147579
CA1559224
537 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1179732472
CA346103123
537 R>H No ClinGen
TOPMed
gnomAD
rs936677530
CA44371964
544 S>L No ClinGen
Ensembl
rs369234791
CA44372007
COSM1738717
545 P>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
CA346103261
rs369234791
545 P>R No ClinGen
TOPMed
gnomAD
rs375018507
CA44372000
545 P>S No ClinGen
gnomAD
rs991046346
CA44372018
546 D>N No ClinGen
TOPMed
gnomAD
rs930292772
CA44372024
547 T>A No ClinGen
TOPMed
gnomAD
CA346103289
rs1264761457
547 T>I No ClinGen
TOPMed
CA346103332
rs1218264929
550 L>F No ClinGen
gnomAD
CA346103354
rs1276312416
551 Y>C No ClinGen
gnomAD
CA346103403
rs1574595628
554 P>R No ClinGen
Ensembl
CA1559229
rs749003017
555 C>R No ClinGen
ExAC
gnomAD
rs1305584888
CA346103426
556 T>S No ClinGen
TOPMed
CA346103448
rs1232503386
557 W>C No ClinGen
gnomAD
CA1559230
rs770718279
557 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs949569791
CA44372048
558 G>R No ClinGen
Ensembl
rs1310777387
CA346103460
558 G>V No ClinGen
TOPMed
gnomAD
CA346103476
rs1259162908
559 D>E No ClinGen
gnomAD
rs1212765359
CA346103469
559 D>Y No ClinGen
gnomAD
rs1046627949
CA44372055
561 K>E No ClinGen
gnomAD
CA346103550
rs1192491698
561 K>N No ClinGen
TOPMed
gnomAD
rs929014675
CA44372075
564 E>D No ClinGen
Ensembl
rs778699518
CA1559231
564 E>K No ClinGen
ExAC
gnomAD
rs747174413
CA1559232
568 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs549568291
CA1559233
568 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs776685082
CA1559234
570 A>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 571 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346103735
rs1399586465
571 P>S No ClinGen
gnomAD
CA44372101
rs1045992415
572 G>R No ClinGen
TOPMed
gnomAD
CA346103776
rs1045992415
572 G>S No ClinGen
TOPMed
gnomAD
rs1171980164
CA346103797
573 P>T No ClinGen
TOPMed
CA346103843
rs1211062560
574 L>P No ClinGen
gnomAD
CA1559238
rs763394474
575 P>L No ClinGen
ExAC
gnomAD
TCGA novel 576 S>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346103925
rs1264719783
579 Q>* No ClinGen
TOPMed
gnomAD
CA346103977
rs1353480149
581 S>G No ClinGen
gnomAD
rs999184827
CA44372118
582 Q>* No ClinGen
TOPMed
rs1283487172
CA346104020
583 A>G No ClinGen
TOPMed
gnomAD
CA346104023
rs1283487172
583 A>V No ClinGen
TOPMed
gnomAD
rs1031576757
CA44372126
584 S>F No ClinGen
TOPMed
CA1559239
rs531671860
585 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346104039
rs956746017
585 R>P No ClinGen
TOPMed
gnomAD
rs956746017
CA44372150
585 R>Q No ClinGen
TOPMed
gnomAD
rs531671860
CA1559240
585 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1010846010
CA44372152
586 A>V No ClinGen
TOPMed
rs1245635855
CA346104074
588 T>K No ClinGen
gnomAD
rs1195456853
CA346104090
589 E>D No ClinGen
TOPMed
gnomAD
CA346104081
rs1476961979
589 E>V No ClinGen
gnomAD
rs550188998
CA44372153
593 G>D No ClinGen
1000Genomes
TOPMed
gnomAD
rs1418919891
CA346104134
593 G>S No ClinGen
TOPMed
gnomAD
rs997287150
CA44372154
594 R>* No ClinGen
TOPMed
gnomAD
CA346104147
rs997287150
594 R>G No ClinGen
TOPMed
gnomAD
rs1401346119
CA346104150
594 R>L No ClinGen
TOPMed
gnomAD
rs1401346119
CA346104149
594 R>P No ClinGen
TOPMed
gnomAD
CA346104155
rs1322909399
595 A>T No ClinGen
gnomAD
CA44372157
rs953478755
596 A>T No ClinGen
TOPMed
CA44372160
rs986209590
597 S>F No ClinGen
TOPMed
CA44372192
rs571546494
601 A>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA44372200
rs972759694
603 T>I No ClinGen
TOPMed
gnomAD
CA346104251
rs972759694
603 T>N No ClinGen
TOPMed
gnomAD
CA346104248
rs1574595861
603 T>P No ClinGen
Ensembl
CA346104273
rs1238509900
605 V>I No ClinGen
TOPMed
gnomAD
CA346104275
rs1238509900
605 V>L No ClinGen
TOPMed
gnomAD
CA44372202
rs919490271
607 T>A No ClinGen
TOPMed
gnomAD
rs371921855
CA1559242
607 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346104331
rs919490271
607 T>P No ClinGen
TOPMed
gnomAD
rs1288477474
CA346104371
609 H>L No ClinGen
gnomAD
CA1559243
rs186209451
609 H>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346104394
rs1321201092
610 S>R No ClinGen
gnomAD
rs1314279378
CA346104433
612 P>A No ClinGen
Ensembl
CA44372214
rs557647163
612 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1559245
rs557647163
612 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs779880292
CA44372238
615 F>C No ClinGen
TOPMed
TCGA novel 615 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1215458705
CA346104575
617 P>L No ClinGen
gnomAD
rs566402560
CA44372241
619 H>Y No ClinGen
1000Genomes
TOPMed
gnomAD
CA44372242
rs991261275
620 P>R No ClinGen
Ensembl
CA346104625
rs1438847732
620 P>S No ClinGen
gnomAD
CA346104678
rs4665834
621 Q>H No ClinGen
gnomAD
rs1558310402
CA346104657
621 Q>R No ClinGen
Ensembl
CA1559248
rs753757174
623 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA44372269
rs375996014
623 R>H No ClinGen
ESP
TOPMed
gnomAD
CA346104712
rs375996014
623 R>P No ClinGen
ESP
TOPMed
gnomAD
CA346104707
rs753757174
623 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA346104726
rs1388614529
624 F>Y No ClinGen
gnomAD
CA346104749
rs1407204831
625 A>V No ClinGen
gnomAD
CA1559250
rs778607793
626 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs147061531
CA1559249
626 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1263164369
CA346104815
629 A>G No ClinGen
gnomAD
CA346104819
rs1574596019
630 L>V No ClinGen
Ensembl
CA346104868
rs1393092084
632 P>L No ClinGen
TOPMed
CA346104855
rs1333704257
632 P>S No ClinGen
gnomAD
CA346104917
rs1239252331
634 S>F No ClinGen
gnomAD
rs755174597
CA1559252
634 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA346104925
CA44372322
rs889078345
635 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 635 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA44372334
rs1008065863
636 P>T No ClinGen
TOPMed
gnomAD
CA1559255
rs769872223
637 A>G No ClinGen
ExAC
gnomAD
rs1252360604
CA346104987
638 Y>* No ClinGen
gnomAD
rs1196681211
CA346104986
638 Y>C No ClinGen
gnomAD
CA346105001
rs1438208544
639 P>L No ClinGen
gnomAD
rs1476218078
CA346105074
644 A>V No ClinGen
gnomAD
rs543972022
CA1559258
645 A>V No ClinGen
1000Genomes
ExAC
gnomAD
CA346105093
rs1170169106
646 L>M No ClinGen
TOPMed
gnomAD
CA1559259
rs774844982
647 S>F No ClinGen
ExAC
gnomAD
CA346105107
rs774844982
647 S>Y No ClinGen
ExAC
gnomAD
rs556154747
CA44372426
648 S>Y No ClinGen
1000Genomes
TOPMed
gnomAD
CA44372434
rs201364548
649 G>R No ClinGen
gnomAD
rs1574596139
CA346105200
653 T>P No ClinGen
Ensembl
rs887557097
CA44372436
COSM1206395
654 S>L large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
TCGA novel 655 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1463960269
CA346105232
655 G>S No ClinGen
TOPMed
gnomAD
CA346105279
rs1298405662
656 P>L No ClinGen
TOPMed
TCGA novel 657 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1216673458
CA346105323
659 T>A No ClinGen
gnomAD
rs200355323
CA44372479
659 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs200355323
CA1559262
659 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1574596192
CA346105344
660 S>P No ClinGen
Ensembl
CA346105372
rs1253829913
661 G>D No ClinGen
gnomAD
CA346105354
rs1199717460
661 G>S No ClinGen
gnomAD
TCGA novel 662 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346105392
rs1188955277
663 A>E No ClinGen
TOPMed
gnomAD
rs1486736780
CA346105388
663 A>S No ClinGen
gnomAD
rs1486736780
CA346105384
663 A>T No ClinGen
gnomAD
CA346105394
rs1188955277
663 A>V No ClinGen
TOPMed
gnomAD
CA346105429
rs1476909388
665 S>P No ClinGen
gnomAD
rs760266735
CA44372503
668 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs760266735
CA1559263
668 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs915586479
CA44372506
670 S>L No ClinGen
TOPMed
gnomAD
CA44372530
rs948403157
671 P>S No ClinGen
TOPMed
rs1313139080
CA346105598
673 Q>H No ClinGen
gnomAD
rs1339253183
CA346105606
674 A>T No ClinGen
gnomAD
rs1380070301
CA346105617
674 A>V No ClinGen
gnomAD
CA346105619
rs1250094140
675 Y>N No ClinGen
TOPMed
CA346105645
rs1218614869
676 S>L No ClinGen
TOPMed
CA346105685
rs1326889143
679 P>L No ClinGen
gnomAD
CA1559265
rs544952908
680 P>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA346105697
rs544952908
680 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs544952908
CA44372545
680 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1349811298
CA346105748
683 C>Y No ClinGen
gnomAD
CA1559267
rs765213415
684 A>T No ClinGen
ExAC
CA346105758
rs1285626911
684 A>V No ClinGen
gnomAD
CA346105768
rs1262533799
686 S>P No ClinGen
TOPMed
gnomAD
TCGA novel 686 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1474280037
CA346105784
688 S>A No ClinGen
TOPMed
CA346105786
rs1237080841
688 S>F No ClinGen
TOPMed
CA346105803
rs1397221343
689 S>F No ClinGen
gnomAD
rs1574596406
CA346105909
696 P>T No ClinGen
Ensembl
rs1455625531
CA346105948
699 E>K No ClinGen
gnomAD
CA346105969
rs1260562795
700 P>S No ClinGen
TOPMed
rs1290044338
CA346106003
702 D>H No ClinGen
TOPMed
gnomAD
rs1290044338
CA346106000
702 D>N No ClinGen
TOPMed
gnomAD
rs748345730
CA1559272
703 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA44372608
rs970729688
703 P>L No ClinGen
TOPMed
gnomAD
CA346106031
rs970729688
703 P>R No ClinGen
TOPMed
gnomAD
CA346106024
rs748345730
703 P>T No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 707 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756296455
CA1559273
708 Q>P No ClinGen
ExAC
gnomAD
CA346106156
rs1234836390
709 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA346106146
rs574933561
709 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA1559274
rs574933561
709 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs749386224
CA346106165
710 S>G No ClinGen
ExAC
gnomAD
rs749386224
CA1559275
710 S>R No ClinGen
ExAC
gnomAD
CA346106184
rs1574596495
710 S>T No ClinGen
Ensembl
rs1351710095
CA346106199
711 S>Y No ClinGen
gnomAD
CA44372618
rs982326710
717 L>Q No ClinGen
Ensembl
rs369253708
CA1559276
718 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA346106341
rs1228430212
719 S>F No ClinGen
gnomAD
CA346106347
rs1558310809
720 Q>P No ClinGen
Ensembl
CA346106392
rs1445794299
722 P>S No ClinGen
TOPMed
rs561457600
CA44372646
723 R>G No ClinGen
1000Genomes
CA346106496
rs1255491199
726 G>V No ClinGen
gnomAD
CA346106540
rs1454982535
728 P>S No ClinGen
gnomAD
rs984724478
CA44372667
733 R>C No ClinGen
TOPMed
gnomAD
rs1416895270
CA346106653
734 L>P No ClinGen
gnomAD
rs908944120
CA44372682
735 S>L No ClinGen
Ensembl
rs1558310852
CA346106693
737 L>F No ClinGen
Ensembl
CA346106793
rs1457003775
741 K>T No ClinGen
gnomAD
rs941753197
CA44372693
747 G>V No ClinGen
TOPMed
CA346106945
rs1323801291
748 L>S No ClinGen
gnomAD
CA346106958
rs1236582841
749 V>A No ClinGen
TOPMed
rs1208694803
CA346106953
749 V>L No ClinGen
gnomAD
CA346106989
rs1256948432
751 H>R No ClinGen
gnomAD
CA346106985
rs1441564354
751 H>Y No ClinGen
TOPMed
gnomAD
CA346107029
rs1484475515
753 V>L No ClinGen
gnomAD
rs1574596625
CA346107063
755 T>P No ClinGen
Ensembl
CA44372702
rs1038797079
757 L>Q No ClinGen
Ensembl
CA44372695
rs1006509489
757 L>V No ClinGen
TOPMed
rs746405715
CA1559278
760 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs746405715
CA346107259
760 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1225636611
CA346107362
765 P>S No ClinGen
gnomAD
rs772514201
CA1559279
766 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs549984945
CA346107433
767 A>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1559280
rs549984945
767 A>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1306662150
CA346107461
768 G>E No ClinGen
TOPMed
CA346107488
rs1239111087
770 A>G No ClinGen
TOPMed
CA44372743
rs571648370
775 Q>H No ClinGen
1000Genomes
rs532424561
CA1559281
777 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA1559282
rs201944096
777 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201944096
CA44372775
777 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1236675342
CA346107667
779 E>D No ClinGen
TOPMed
gnomAD
rs1349364873
CA346107656
779 E>K No ClinGen
TOPMed
rs999300618
CA44372804
782 P>L No ClinGen
TOPMed
rs1481851252
CA346107715
782 P>S No ClinGen
gnomAD
rs1250877023
CA346107736
784 S>G No ClinGen
gnomAD
rs1162101644
CA346107758
786 R>Q No ClinGen
TOPMed
gnomAD
rs774968911
CA44372821
786 R>W No ClinGen
TOPMed
gnomAD
CA346107803
rs1169905496
790 T>A No ClinGen
gnomAD
rs533829019
CA44372839
791 G>A No ClinGen
1000Genomes
gnomAD
CA346107815
rs533829019
791 G>D No ClinGen
1000Genomes
gnomAD
rs988481912
CA44372843
795 R>* No ClinGen
TOPMed
gnomAD
CA1559286
rs750313344
795 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA346107889
rs1298959267
797 A>T No ClinGen
gnomAD
rs1247817114
CA346107898
797 A>V No ClinGen
TOPMed
rs970677344
CA44372859
798 S>F No ClinGen
gnomAD
rs1300897102
CA346107914
799 S>P No ClinGen
TOPMed
gnomAD
rs1413186947
CA346107970
802 P>L No ClinGen
gnomAD
rs867110188
CA44372865
803 P>S No ClinGen
TOPMed
CA1559287
rs762894092
808 A>S No ClinGen
ExAC
gnomAD
CA1559288
rs555192210
810 S>P No ClinGen
1000Genomes
ExAC
gnomAD
CA346108130
rs1237279599
814 V>G No ClinGen
gnomAD
CA44372902
rs951633197
814 V>I No ClinGen
Ensembl
CA1559291
rs777906837
815 S>F No ClinGen
ExAC
gnomAD
rs537981003
CA346108145
816 R>C No ClinGen
1000Genomes
TOPMed
gnomAD
rs1475278531
CA346108147
816 R>H No ClinGen
TOPMed
gnomAD
CA346108150
rs1475278531
816 R>P No ClinGen
TOPMed
gnomAD
CA44372920
rs537981003
816 R>S No ClinGen
1000Genomes
TOPMed
gnomAD
rs1348156410
CA346108152
817 S>G No ClinGen
gnomAD
CA346108156
rs1192818742
817 S>N No ClinGen
TOPMed
gnomAD
rs1417380070
CA346108169
819 R>C No ClinGen
TOPMed
gnomAD
CA44372923
rs910013648
819 R>H No ClinGen
TOPMed
gnomAD
CA346108182
rs1170816837
821 I>L No ClinGen
gnomAD
rs1170816837
CA346108183
821 I>V No ClinGen
gnomAD
COSM1019307
CA346108190
rs1433036717
822 G>R endometrium [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs1433036717
CA346108191
822 G>W No ClinGen
TOPMed
gnomAD
CA346108199
rs1315063793
823 L>P No ClinGen
TOPMed
gnomAD
rs371105590
CA1559292
826 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1215670578
CA346108255
830 F>C No ClinGen
TOPMed
gnomAD
CA346108275
rs1346195540
832 A>S No ClinGen
gnomAD
CA44372941
rs867403747
832 A>V No ClinGen
gnomAD
rs1485711901
CA346108280
833 R>* No ClinGen
gnomAD
CA346108283
rs1214530171
833 R>Q No ClinGen
gnomAD
rs757369701
CA1559293
835 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1476315874
COSM1407180
CA346108313
835 R>H large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
rs911127078
CA44372977
837 D>H No ClinGen
TOPMed
TCGA novel 837 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA346108435
rs1452383652
840 I>T No ClinGen
gnomAD
rs1376355255
CA346108510
844 L>F No ClinGen
gnomAD
CA346108508
rs1376355255
844 L>V No ClinGen
gnomAD
rs1419343554
CA346108532
845 S>I No ClinGen
TOPMed
gnomAD
rs1419343554
CA346108529
845 S>T No ClinGen
TOPMed
gnomAD
CA44373004
rs879353735
857 K>N No ClinGen
Ensembl
rs1280089150
CA346108768
858 L>M No ClinGen
TOPMed
gnomAD
CA346108776
rs1369198583
859 Q>E No ClinGen
gnomAD
CA1559296
rs772458705
861 K>R No ClinGen
ExAC
gnomAD
rs544678629
CA44373015
863 I>M No ClinGen
1000Genomes
CA1559297
rs553758646
864 M>V No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 866 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA1559298
rs747388157
867 I>V No ClinGen
ExAC
gnomAD
rs1448272535
CA346109114
869 G>A No ClinGen
gnomAD
CA44373037
rs932977421
873 K>E No ClinGen
Ensembl
rs540110481
CA346109249
874 I>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs772580686
CA44373041
874 I>T No ClinGen
Ensembl
rs1249698713
CA346109239
874 I>V No ClinGen
gnomAD

No associated diseases with Q75VX8

1 regional properties for Q75VX8

Type Name Position InterPro Accession
domain CABIT domain 29 - 338 IPR025946

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

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

No GO annotations of biological process

Name Definition
No GO annotations for biological process

2 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9H706 GAREM1 GRB2-associated and regulator of MAPK protein 1 Homo sapiens (Human) PR
Q3UFT3 Garem1 GRB2-associated and regulator of MAPK protein Mus musculus (Mouse) PR
10 20 30 40 50 60
MEKLAAGLAG LRWSMGAFPL DLIVSRCRLP TLACLGPGEY AEGVSERDIL LIHSCRQWTT
70 80 90 100 110 120
VTAHTLEEGH YVIGPKIDIP LQYPGKFKLL EQARDVREPV RYFSSVEEVA SVFPDRIFVM
130 140 150 160 170 180
EAITFSVKVV SGEFSEDSEV YNFTLHAGDE LTLMGQAEIL CAKTTKERSR FTTLLRKLGR
190 200 210 220 230 240
AGALAGVGGG GPASAGAAGG TGGGGARPVK GKMPCLICMN HRTNESLSLP FQCQGRFSTR
250 260 270 280 290 300
SPLELQMQEG EHTVRAIIER VRLPVNVLVP SRPPRNPYDL HPVREGHCYK LVSIISKTVV
310 320 330 340 350 360
LGLALRREGP APLHFLLLTD TPRFALPQGL LAGDPRVERL VRDSASYCRE RFDPDEYSTA
370 380 390 400 410 420
VREAPAELAE DCASPRRARL CLPAPRAPGL ARAPGPLAPA PAGEGDQEYV SPDWAAAPEP
430 440 450 460 470 480
AAPPAEIPYE ELWAHQGPEG LVRPPPGLDL ISFGAAGPPR REPEAPPPPV PPKSEAVKEE
490 500 510 520 530 540
CRLLNAPPVP PRGGNGSGRL SSSPPVPPRF PKLQPVHSPS SSLSYYSSGL QDGAGSRSGS
550 560 570 580 590 600
GSPSPDTYSL YCYPCTWGDC KVGESSSRPA PGPLPSTTQP SQASRALTEP LSGRAASLLG
610 620 630 640 650 660
ADTPVKTYHS CPPLFKPSHP QKRFAPFGAL NPFSGPAYPS GPSAALSSGP RTTSGPVATS
670 680 690 700 710 720
GPAYSPGPAS PGQAYSAAPP SSCAPSSSSS SEWQEPVLEP FDPFELGQGS SPEPELLRSQ
730 740 750 760 770 780
EPRAVGTPGP GPRLSPLGPS KAFEPEGLVL HQVPTPLSPA ALQGPEAGGA LFLTQGRLEG
790 800 810 820 830 840
PPASPRDGAT GFGVRDASSW QPPADLSALS LEEVSRSLRF IGLSEDVVSF FARERIDGSI
850 860 870
FVQLSEDILA DDFHLTKLQV KKIMQFIKGW RPKI