Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q9ULU8

Entry ID Method Resolution Chain Position Source
1WI1 NMR - A 522-634 PDB
AF-Q9ULU8-F1 Predicted AlphaFoldDB

930 variants for Q9ULU8

Variant ID(s) Position Change Description Diseaes Association Provenance
CA174902
COSM1179562
rs193921128
COSM1179563
RCV000149385
162 A>T Malignant tumor of prostate prostate [ClinVar, Cosmic] Yes ClinGen
cosmic curated
ClinVar
dbSNP
gnomAD
CA2477366
rs753008027
3 D>N No ClinGen
ExAC
TOPMed
gnomAD
rs1234944909
CA353535399
4 P>L No ClinGen
TOPMed
rs759782285
CA2477364
6 S>T No ClinGen
ExAC
TOPMed
gnomAD
CA353535390
rs1228373744
6 S>Y No ClinGen
gnomAD
rs1300303855
CA353535386
7 S>G No ClinGen
gnomAD
TCGA novel 10 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353535359
rs1346483473
10 E>G No ClinGen
TOPMed
rs1339522614
CA353535348
12 D>N No ClinGen
gnomAD
CA2477363
rs776782869
13 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs201514742
COSM1538354
COSM1538353
CA353535330
14 I>M lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs770846736
CA2477362
14 I>T No ClinGen
ExAC
TOPMed
gnomAD
CA75893430
rs903562646
14 I>V No ClinGen
TOPMed
rs1199810382
CA353535327
15 V>L No ClinGen
TOPMed
CA353535304
rs1427790288
18 E>K No ClinGen
gnomAD
rs772478182
CA2477358
19 S>N No ClinGen
ExAC
TOPMed
gnomAD
CA353535292
rs774661931
CA2477356
19 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA353535290
rs768322888
20 G>C No ClinGen
ExAC
gnomAD
CA2477355
rs768322888
20 G>S No ClinGen
ExAC
gnomAD
rs748835245
CA75893417
23 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs748835245
CA2477354
23 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs1181909351
CA353535248
26 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1310801317
CA353535245
27 A>T No ClinGen
TOPMed
rs1482373470
CA353535242
27 A>V No ClinGen
gnomAD
rs757218775
CA353535237
28 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs757218775
CA2477349
28 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1358240148
CA353535228
30 G>D No ClinGen
TOPMed
rs751422032
CA2477348
30 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1355510786
CA353535220
31 A>V No ClinGen
gnomAD
CA2477346
rs755251601
32 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs755251601
CA353535215
32 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA353535191
rs1329532583
36 S>R No ClinGen
TOPMed
gnomAD
rs1404534547
CA353535188
37 R>G No ClinGen
gnomAD
rs574548082
CA2477343
37 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs574548082
CA75893406
37 R>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353535182
rs1458758426
38 T>N No ClinGen
TOPMed
TCGA novel 40 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353535162
rs1162980465
41 G>S No ClinGen
TOPMed
CA353535153
rs1393289371
42 S>W No ClinGen
TOPMed
rs1418603207
CA353535146
43 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 45 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs774712790
CA2477339
45 S>R No ClinGen
ExAC
TOPMed
gnomAD
CA353535131
rs1254588183
46 A>S No ClinGen
gnomAD
CA353535122
rs1451372707
47 G>A No ClinGen
TOPMed
gnomAD
CA353535114
rs1288222212
49 G>R No ClinGen
TOPMed
gnomAD
rs768942724
CA2477338
49 G>V No ClinGen
ExAC
gnomAD
CA353535113
rs1288222212
49 G>W No ClinGen
TOPMed
gnomAD
rs1266879415 50 G>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA353535107
rs1335105830
50 G>D No ClinGen
TOPMed
gnomAD
CA353535109
rs1333040025
50 G>R No ClinGen
TOPMed
rs1258843946
CA353535104
51 G>C No ClinGen
TOPMed
CA353535093
rs1480368155
52 G>V No ClinGen
TOPMed
CA2477337
rs749038689
53 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1351858286
CA353535087
54 G>S No ClinGen
TOPMed
gnomAD
rs903630359
CA75893398
54 G>V No ClinGen
TOPMed
CA353535082
rs1461055146
55 A>T No ClinGen
TOPMed
CA353535075
rs1295879050
56 G>R No ClinGen
TOPMed
rs966452381
CA75893394
59 V>G No ClinGen
Ensembl
rs1307082377
CA353535050
60 G>D No ClinGen
TOPMed
rs1202535271
CA353535033
63 G>C No ClinGen
TOPMed
CA353535020
rs1387868263
65 G>E No ClinGen
gnomAD
rs1210752627
CA353535023
65 G>R No ClinGen
TOPMed
CA353535017
rs1329096152
66 G>C No ClinGen
TOPMed
gnomAD
rs556260817
CA75893392
68 G>C No ClinGen
1000Genomes
gnomAD
CA353534990
rs1158794212
70 S>C No ClinGen
TOPMed
gnomAD
rs1158794212
CA353534991
70 S>G No ClinGen
TOPMed
gnomAD
CA353534956
rs1298515899
75 A>S No ClinGen
TOPMed
rs1553808893
CA2477334
75 A>V No ClinGen
Ensembl
CA353534949
rs1577765614
76 G>E No ClinGen
Ensembl
rs1200827323
CA353534943
77 G>A No ClinGen
TOPMed
gnomAD
rs1200827323
CA353534944
77 G>E No ClinGen
TOPMed
gnomAD
rs1560049709
CA353534923
80 P>R No ClinGen
Ensembl
CA353534907
rs745400126
82 S>R No ClinGen
ExAC
TOPMed
gnomAD
rs1245298719
CA353534891
85 G>D No ClinGen
gnomAD
COSM404608
rs757273840
CA2477330
COSM404607
87 G>C lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1241887408
CA353534880
87 G>D No ClinGen
TOPMed
CA353534876
rs1206486296
88 R>W No ClinGen
gnomAD
rs1218523580
CA353534859
91 S>G No ClinGen
gnomAD
CA2477327
rs758112611
92 P>S No ClinGen
ExAC
gnomAD
TCGA novel 93 S>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1364266570
CA353534834
94 P>L No ClinGen
TOPMed
gnomAD
CA353534828
rs1433222269
95 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs754135566
CA2477326
96 V>A No ClinGen
ExAC
gnomAD
rs1159956710
CA353534825
96 V>L No ClinGen
gnomAD
CA353534827
rs1159956710
96 V>M No ClinGen
gnomAD
CA353534818
rs1172399849
97 V>A No ClinGen
TOPMed
rs1423695828
CA353534816
98 S>C No ClinGen
gnomAD
CA2477325
rs766482938
CA353534810
98 S>R No ClinGen
ExAC
gnomAD
rs1454960732
CA353534805
99 E>G No ClinGen
gnomAD
CA2477323
rs373181966
103 E>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1242130335
CA353534770
104 E>K No ClinGen
gnomAD
CA353534769
rs1242130335
104 E>Q No ClinGen
gnomAD
rs146998598
CA2477320
106 E>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353534748
rs1282365865
107 R>G No ClinGen
TOPMed
gnomAD
rs1341159314
CA353534738
109 Q>E No ClinGen
TOPMed
gnomAD
CA353534734
rs1295171104
109 Q>R No ClinGen
gnomAD
CA353534730
rs1577761908
110 K>Q No ClinGen
Ensembl
rs1315529251
CA353534726
110 K>R No ClinGen
TOPMed
rs1336807592
CA353534721
111 E>Q No ClinGen
gnomAD
rs1226398589
CA353534714
112 E>K No ClinGen
gnomAD
rs762313702
CA2477319
113 E>Q No ClinGen
ExAC
gnomAD
rs1315314790
CA353534687
115 R>K No ClinGen
TOPMed
gnomAD
CA353534685
rs1192523473
115 R>S No ClinGen
TOPMed
rs140977565
CA353534670
117 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA75893367
rs911062205
121 L>V No ClinGen
TOPMed
gnomAD
rs142784700
CA353534621
CA353534622
125 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs142784700
CA2477316
125 V>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1395567771
CA353534608
127 R>S No ClinGen
TOPMed
CA75893365
rs867074864
130 A>S No ClinGen
TOPMed
CA353534586
rs867074864
130 A>T No ClinGen
TOPMed
CA353534574
rs763206239
132 P>A No ClinGen
ExAC
gnomAD
rs763206239
CA2477315
132 P>T No ClinGen
ExAC
gnomAD
TCGA novel 135 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353534541
rs1211458493
136 K>N No ClinGen
TOPMed
gnomAD
CA353534539
rs1482702155
137 Q>* No ClinGen
gnomAD
CA75893358
rs868252043
140 D>N No ClinGen
Ensembl
CA75893357
rs1047897183
141 M>K No ClinGen
gnomAD
rs1047897183
CA353534508
141 M>T No ClinGen
gnomAD
CA353534492
rs759170162
144 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs1397886005
CA353534303
148 I>L No ClinGen
TOPMed
CA353534292
rs1161144698
149 S>N No ClinGen
gnomAD
rs1346064043
CA353534277
151 Q>L No ClinGen
TOPMed
CA2477287
rs768495306
153 L>Q No ClinGen
ExAC
gnomAD
CA75871575
rs758428664
154 Q>R No ClinGen
gnomAD
CA353534244
COSM1617986
COSM1617987
rs1189252775
156 V>D liver [Cosmic] No ClinGen
cosmic curated
gnomAD
CA353534235
rs1469702462
157 K>N No ClinGen
TOPMed
gnomAD
CA2477285
rs781371846
159 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2477284
rs757369103
159 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1247238
COSM1247237
CA75871574
rs781371846
159 R>W Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs751660042
CA2477283
161 Q>* No ClinGen
ExAC
gnomAD
CA353534207
rs193921128
162 A>S No ClinGen
gnomAD
rs1352029648
CA353534199
163 F>C No ClinGen
TOPMed
CA2477282
rs777849521
163 F>L No ClinGen
ExAC
rs1225176813
CA353534196
164 L>I No ClinGen
TOPMed
rs374048491
CA2477281
COSM393621
COSM393620
165 N>S lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1439156922
CA353534177
167 E>Q No ClinGen
gnomAD
CA2477279
rs765574786
168 T>S No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 169 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA75871573
rs1012911039
169 Q>P No ClinGen
TOPMed
gnomAD
rs551771748
CA2477276
171 M>I No ClinGen
1000Genomes
ExAC
gnomAD
CA2477277
rs753582174
171 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs202064143
CA2477273
173 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2477274
rs772865797
173 D>G No ClinGen
ExAC
gnomAD
CA353534131
rs1395502026
174 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA353534120
rs1576084107
175 A>G No ClinGen
Ensembl
rs1194460354
CA353534121
175 A>S No ClinGen
gnomAD
CA353534104
rs1378685272
177 M>I No ClinGen
TOPMed
CA2477272
rs761723810
177 M>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs768387474
CA353534096
178 N>K No ClinGen
ExAC
TOPMed
gnomAD
CA2477271
rs774331824
178 N>Y No ClinGen
ExAC
TOPMed
gnomAD
CA2477269
rs749053370
179 A>V No ClinGen
ExAC
rs775215525
CA353534089
180 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2477268
rs775215525
180 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA353534082
rs1255912612
181 Q>* No ClinGen
gnomAD
rs946874983
CA75871571
181 Q>H No ClinGen
gnomAD
rs1232809758
CA353534074
182 S>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353534070
rs1559522190
182 S>R No ClinGen
Ensembl
rs771152842
CA353534062
183 Y>* No ClinGen
ExAC
gnomAD
CA353534057
rs1227135917
184 Y>C No ClinGen
gnomAD
rs1304651123
CA353534060
184 Y>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353534000
rs1416467974
189 K>T No ClinGen
gnomAD
rs1356023572
CA353533993
190 S>C No ClinGen
gnomAD
CA353533992
rs1307402806
190 S>N No ClinGen
gnomAD
CA75870166
rs900216693
191 D>E No ClinGen
Ensembl
rs764052619
CA2477253
191 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA353533982
rs764052619
191 D>Y No ClinGen
ExAC
TOPMed
gnomAD
rs762817680
CA2477252
192 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA2477251
rs775267200
192 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs1417176726
CA353533956
COSM331378
COSM331379
193 V>M lung [Cosmic] No ClinGen
cosmic curated
TOPMed
gnomAD
rs769571334
CA2477250
194 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs747289008
COSM1047988
COSM1047989
CA2477249
194 A>V Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2477248
COSM1047986
rs759883423
COSM1047987
195 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs748288278
CA2477246
195 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA2477247
rs748288278
195 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA353533915
rs1575876279
196 M>I No ClinGen
Ensembl
rs778806598
CA353533924
196 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs778806598
CA2477245
COSM133393
196 M>V ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1368260579
CA353533881
199 S>N No ClinGen
TOPMed
rs1275578834
CA353533857
201 G>S No ClinGen
gnomAD
rs780636772
CA2477242
204 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA353533791
rs149627119
205 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs756534479
CA2477241
205 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA75870165
rs567491404
207 S>Y No ClinGen
TOPMed
gnomAD
rs756821447
CA2477238
208 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs150525596
COSM3696236
COSM3696235
CA75870164
208 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1329305945
CA353533740
210 V>F No ClinGen
TOPMed
gnomAD
rs1575875445
CA353533736
210 V>G No ClinGen
Ensembl
rs1329305945
CA353533742
210 V>I No ClinGen
TOPMed
gnomAD
rs201199713
CA2477236
215 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA2477233
rs765062014
219 V>E No ClinGen
ExAC
TOPMed
gnomAD
CA2477234
rs752617298
219 V>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2477232
rs200699296
220 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2477231
rs776247631
COSM1238414
COSM1238415
220 R>H oesophagus [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA353533589
rs776247631
220 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2477229
rs201960341
221 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2477228
rs201960341
221 S>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1022786029
CA75870162
223 P>R No ClinGen
TOPMed
CA353533536
rs1575874801
224 E>D No ClinGen
Ensembl
CA2477226
rs372234823
227 G>S No ClinGen
ESP
ExAC
TOPMed
rs770322543
CA2477224
229 S>R No ClinGen
ExAC
gnomAD
CA353533460
rs1266959466
230 K>R No ClinGen
gnomAD
rs960807970
CA75870161
231 E>G No ClinGen
TOPMed
TCGA novel 231 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353533446
rs960807970
231 E>V No ClinGen
TOPMed
CA353533441
rs1575874444
232 T>A No ClinGen
Ensembl
CA353533430
rs1183750573
232 T>I No ClinGen
gnomAD
CA2477223
rs746277038
234 L>M No ClinGen
ExAC
gnomAD
CA2477222
rs781364132
238 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1280127722
CA353533337
239 A>D No ClinGen
TOPMed
gnomAD
TCGA novel 239 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1443665111
CA353533330
240 K>Q No ClinGen
gnomAD
CA353533260
rs1443411062
245 Y>D No ClinGen
gnomAD
rs757880751
CA2477218
246 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
COSM1047983
rs752666502
COSM1047982
CA2477217
246 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353533240
rs752666502
246 R>L No ClinGen
ExAC
TOPMed
gnomAD
rs765186750
CA2477216
247 G>A No ClinGen
ExAC
gnomAD
CA353533231
rs765186750
247 G>E No ClinGen
ExAC
gnomAD
rs1575873511
CA353533195
250 D>A No ClinGen
Ensembl
rs1454081764
CA353533199
250 D>Y No ClinGen
gnomAD
rs759339095
CA2477215
251 P>L No ClinGen
ExAC
gnomAD
COSM1309428
CA75870159
COSM1309429
rs1022980072
252 R>Q Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
COSM239135
CA353533168
rs149095712
COSM239134
252 R>W endometrium prostate [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1010534316
CA75870158
255 Q>P No ClinGen
Ensembl
CA2477212
rs762164412
256 A>T No ClinGen
ExAC
gnomAD
rs774706010
CA2477211
COSM3824521
COSM3824520
256 A>V breast [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353533111
rs1345412626
257 R>L No ClinGen
gnomAD
CA353533113
rs1345412626
257 R>Q No ClinGen
gnomAD
CA75870157
rs1017308312
257 R>W No ClinGen
gnomAD
CA2477209
CA2477210
rs763095162
258 M>I No ClinGen
ExAC
gnomAD
CA75870156
CA353533110
rs374555826
258 M>L No ClinGen
TOPMed
rs200446361
CA2477207
261 S>R No ClinGen
1000Genomes
ExAC
gnomAD
rs775673407
CA2477208
261 S>T No ClinGen
ExAC
gnomAD
COSM1309427
CA2477205
rs150415917
COSM1309426
262 A>T Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 263 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 264 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353533074
rs1428715095
264 S>P No ClinGen
gnomAD
rs771185889
CA2477204
265 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353533061
rs1575872189
266 L>V No ClinGen
Ensembl
rs746724636
CA2477203
268 L>M No ClinGen
ExAC
gnomAD
rs1373980414
CA353533030
271 E>K No ClinGen
gnomAD
CA353533004
rs1245462818
274 Y>C No ClinGen
gnomAD
CA75870154
rs1003851252
275 E>D No ClinGen
TOPMed
CA75870153
rs776843736
277 F>L No ClinGen
Ensembl
CA353532981
rs1418349931
277 F>Y No ClinGen
gnomAD
CA2477201
rs758002941
278 Q>E No ClinGen
ExAC
gnomAD
CA2477200
rs372022670
280 I>V No ClinGen
ESP
ExAC
gnomAD
CA353532955
rs778333875
281 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs778333875
CA2477199
281 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs754949575
CA2477198
282 G>E No ClinGen
ExAC
gnomAD
rs189008412
CA2477196
285 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353532916
COSM175314
rs1284442406
287 E>K large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
CA353532877
rs1244326310
292 Y>C No ClinGen
TOPMed
rs764442493
CA2477193
293 N>S No ClinGen
ExAC
gnomAD
rs1364106735
CA353532861
294 A>D No ClinGen
gnomAD
COSM1047978
rs763219166
COSM1047979
CA2477192
296 Q>H endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA353420679
rs1297749776
297 L>P No ClinGen
TOPMed
rs767364303
CA2477176
299 N>S No ClinGen
ExAC
gnomAD
rs1459384007
CA353420639
303 Q>K No ClinGen
gnomAD
rs752952903
CA2477174
305 A>D No ClinGen
ExAC
gnomAD
rs765406504
CA2477173
306 Q>R No ClinGen
ExAC
gnomAD
rs776727904
CA2477171
313 G>* No ClinGen
ExAC
gnomAD
CA2477169
COSM1047976
COSM1047977
rs761109512
314 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
COSM1425039
rs773569176
COSM1425038
CA2477168
314 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2477166
rs138272083
317 M>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2477167
rs772423610
317 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 319 D>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA75665212
rs764018019
320 Q>H No ClinGen
Ensembl
rs1042386191
CA75665208
322 A>T No ClinGen
Ensembl
CA2477165
rs773854261
322 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs900863254
CA75665188
323 R>T No ClinGen
TOPMed
COSM1180203
CA2477146
rs768219996
COSM1180202
325 R>C prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA353420485
rs768219996
325 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA2477145
rs762611876
325 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA353420462
rs1579636181
328 P>L No ClinGen
Ensembl
CA2477144
rs774869379
328 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353420429
rs1171542781
333 K>T No ClinGen
TOPMed
gnomAD
CA75655698
rs961114706
334 E>Q No ClinGen
TOPMed
TCGA novel 336 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1436419611
CA353420409
336 E>K No ClinGen
gnomAD
rs746801653
CA2477139
338 M>I No ClinGen
ExAC
gnomAD
CA2477140
rs770947824
338 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1188760041
CA353420374
340 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353420377
rs1259767752
340 I>V No ClinGen
gnomAD
TCGA novel 341 E>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2477138
rs777565349
344 K>T No ClinGen
ExAC
gnomAD
rs1393960968
CA353420325
348 N>D No ClinGen
TOPMed
rs373248827
CA75655656
348 N>S No ClinGen
TOPMed
rs373248827
CA353420322
348 N>T No ClinGen
TOPMed
CA2477135
COSM3408853
COSM3408854
rs780167475
352 A>T central_nervous_system [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 353 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1346264419
CA353420287
353 N>K No ClinGen
TOPMed
rs750970158
CA2477133
353 N>S No ClinGen
ExAC
gnomAD
rs1347372556
CA353420261
357 M>L No ClinGen
TOPMed
gnomAD
rs1347372556
CA353420262
357 M>V No ClinGen
TOPMed
gnomAD
rs768044590
CA2477132
358 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs867439565
CA75655629
358 P>S No ClinGen
Ensembl
rs1368904231
CA353420221
363 G>A No ClinGen
TOPMed
CA2477129
rs764455169
363 G>R No ClinGen
ExAC
gnomAD
CA2477127
rs759661468
365 F>C No ClinGen
ExAC
gnomAD
CA353420209
rs1579633570
365 F>V No ClinGen
Ensembl
CA2477125
rs759144701
368 Q>R No ClinGen
ExAC
gnomAD
CA2477124
rs776227927
372 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs1214963810
CA353420159
372 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA353420161
rs776227927
372 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA353420154
rs1172635650
373 S>G No ClinGen
gnomAD
TCGA novel 373 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353420136
rs1404177679
375 N>S No ClinGen
gnomAD
rs746896565
CA2477122
376 A>V No ClinGen
ExAC
gnomAD
TCGA novel 377 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1287212322
CA353420124
377 S>Y No ClinGen
Ensembl
rs771885497
CA2477120
378 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs771885497
CA353420120
378 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA2477119
rs200844222
379 I>V No ClinGen
1000Genomes
ExAC
rs756290612
CA2477117
380 D>N No ClinGen
ExAC
gnomAD
rs1252763033
CA353420096
381 M>I No ClinGen
gnomAD
CA353420099
rs1337056897
381 M>T No ClinGen
TOPMed
gnomAD
CA353420101
rs1180025713
381 M>V No ClinGen
TOPMed
rs1563348476
CA353420088
382 G>D No ClinGen
Ensembl
rs1218706119
CA353420092
382 G>R No ClinGen
gnomAD
rs781194971
CA2477115
383 E>K No ClinGen
ExAC
CA75655515
rs773906244
384 E>D No ClinGen
Ensembl
rs1340803999
CA353420046
388 Q>P No ClinGen
gnomAD
rs759206961
CA2477108
394 V>I No ClinGen
ExAC
gnomAD
rs146070021
CA2477106
395 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 396 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353419989
rs1298875350
397 S>Y No ClinGen
TOPMed
CA2477103
rs141787208
399 S>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2477104
rs773180084
399 S>P No ClinGen
ExAC
gnomAD
rs768439289
CA2477082
403 V>I No ClinGen
ExAC
gnomAD
CA353419922
rs1301606575
405 M>I No ClinGen
gnomAD
CA2477081
rs776799903
407 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA353419912
rs776799903
407 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA2477080
rs776799903
407 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs931924886
CA75652158
408 Q>R No ClinGen
TOPMed
rs1388009859
CA353419888
411 K>E No ClinGen
TOPMed
CA353419873
rs1318190842
413 L>* No ClinGen
gnomAD
TCGA novel 413 L>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2477079
rs142795732
414 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM1047973
CA2477078
COSM1047972
rs747130261
417 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs138611744
CA2477077
418 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs144979381
CA2477076
419 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1192606141
CA353419829
420 Y>C No ClinGen
gnomAD
rs1395378894
CA353419810
423 M>V No ClinGen
gnomAD
rs748659970
CA353419796
424 E>D No ClinGen
ExAC
gnomAD
rs1579510170
CA353419789
425 V>G No ClinGen
Ensembl
CA353419780
rs1284155685
427 G>R No ClinGen
TOPMed
COSM274362
rs1490900778
CA353419763
COSM274361
429 E>D large_intestine [Cosmic] No ClinGen
cosmic curated
TOPMed
CA2477074
rs779476764
429 E>G No ClinGen
ExAC
gnomAD
rs1432561880
CA353024415
436 A>S No ClinGen
TOPMed
TCGA novel 438 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 441 P>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2477070
rs146548123
442 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs146548123
CA2477071
442 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 445 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353012459
rs1302321582
446 Q>H No ClinGen
gnomAD
CA353012436
rs1356353505
447 G>V No ClinGen
TOPMed
CA75653692
rs1004590111
449 F>L No ClinGen
TOPMed
rs745586265
CA2477033
452 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs745586265
CA2477032
452 T>N No ClinGen
ExAC
TOPMed
gnomAD
rs1316128633
CA353012292
453 H>Y No ClinGen
TOPMed
rs1420154040
CA353012265
454 A>T No ClinGen
gnomAD
CA353012211
rs531087753
457 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA353012221
rs887402738
457 A>S No ClinGen
TOPMed
gnomAD
CA75653670
rs887402738
457 A>T No ClinGen
TOPMed
gnomAD
CA2477029
rs531087753
457 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA353012206
rs1332137151
458 V>M No ClinGen
Ensembl
rs1235935741
CA353012085
463 F>L No ClinGen
TOPMed
CA2477028
rs367957940
465 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 467 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758393871
CA2477027
467 T>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 468 G>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 468 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200814072
CA75653621
469 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs753627499
CA353011977
471 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA2477023
rs753627499
471 A>V No ClinGen
ExAC
gnomAD
rs147388715
CA353011883
479 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs147388715
COSM1318646
CA2477021
COSM1318647
479 R>Q Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370794609
CA2476999
482 L>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs140246088
CA2476996
486 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 490 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353010876
rs1194895026
492 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1259437739
CA353010842
493 E>G No ClinGen
gnomAD
CA2476993
rs771713733
493 E>K No ClinGen
ExAC
gnomAD
rs771713733
CA2476994
493 E>Q No ClinGen
ExAC
gnomAD
rs1199134561
CA353010810
494 W>L No ClinGen
gnomAD
CA353010743
rs1378690254
496 K>Q No ClinGen
TOPMed
rs1446730517
CA353010651
498 T>I No ClinGen
TOPMed
rs747633246
CA2476992
502 N>S No ClinGen
ExAC
gnomAD
rs749245429
CA2476989
505 D>G No ClinGen
ExAC
gnomAD
CA2476990
rs149527472
505 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2476987
rs755955069
506 Q>E No ClinGen
ExAC
CA2476986
rs751875548
507 D>N No ClinGen
ExAC
gnomAD
rs866121744
CA75646940
508 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2476984
rs758600665
509 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 510 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs752720622
CA2476983
513 A>G No ClinGen
ExAC
gnomAD
CA2476981
COSM193715
COSM193714
rs760015455
515 R>Q Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353010023
rs1178708640
516 M>I No ClinGen
TOPMed
gnomAD
CA353010014
rs1467669027
517 D>Y No ClinGen
gnomAD
CA353009975
rs1287611853
519 P>A No ClinGen
gnomAD
TCGA novel 526 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353007765
rs1288369724
528 L>S No ClinGen
gnomAD
rs1268756406
CA353007754
529 W>C No ClinGen
TOPMed
rs1241189431
CA353007752
530 A>T No ClinGen
gnomAD
rs750792310
CA353007745
531 I>F No ClinGen
ExAC
TOPMed
gnomAD
rs750792310
CA2476958
531 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA75633790
rs567840502
532 G>S No ClinGen
gnomAD
CA353007728
rs1159103031
533 K>N No ClinGen
TOPMed
CA75633785
rs766976261
535 V>D No ClinGen
Ensembl
rs1578016839
CA353007695
538 R>K No ClinGen
Ensembl
CA353007681
rs1379604717
540 K>Q No ClinGen
TOPMed
CA353007672
rs1290650427
541 K>E No ClinGen
TOPMed
gnomAD
CA353007563
rs1243332496
548 Q>R No ClinGen
TOPMed
gnomAD
TCGA novel 552 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs770732308
CA2476931
553 T>P No ClinGen
ExAC
gnomAD
rs746841434
CA2476930
553 T>R No ClinGen
ExAC
gnomAD
CA353005502
rs1398849407
556 M>I No ClinGen
gnomAD
CA353005506
rs1480606199
556 M>T No ClinGen
gnomAD
CA2476928
rs768869284
556 M>V No ClinGen
ExAC
gnomAD
rs1328677012
CA353005474
558 S>G No ClinGen
gnomAD
CA353005413
rs749507974
560 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA2476927
rs749507974
560 R>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1538364
CA75624278
COSM1538363
rs898296147
564 A>V lung Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA353005350
rs1403338805
565 E>D No ClinGen
gnomAD
TCGA novel 574 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1562117969
CA353005161
575 Y>C No ClinGen
Ensembl
CA353005074
rs1577745761
581 D>A No ClinGen
Ensembl
rs751971326
CA2476921
581 D>E No ClinGen
ExAC
gnomAD
CA353005080
rs1439217349
581 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1221521130
CA353005057
582 P>L No ClinGen
gnomAD
rs1252381555
CA353005071
582 P>T No ClinGen
gnomAD
rs1292485646
CA353005027
583 Q>H No ClinGen
gnomAD
rs1339684911
CA353024193
586 L>F No ClinGen
TOPMed
gnomAD
TCGA novel 590 R>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1269484388
CA353024143
590 R>L No ClinGen
TOPMed
rs1279123677
CA353024132
591 A>V No ClinGen
TOPMed
gnomAD
TCGA novel 593 F>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 595 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1465225996
CA353024054
597 K>R No ClinGen
gnomAD
TCGA novel 600 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 602 V>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476883
rs747587522
606 S>I No ClinGen
ExAC
gnomAD
rs1159574074
CA353023944
606 S>R No ClinGen
TOPMed
CA2476881
rs772655154
608 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353023861
rs1577601294
611 D>A No ClinGen
Ensembl
CA2476879
rs779353219
611 D>E No ClinGen
ExAC
gnomAD
rs1456108074
CA353023848
612 R>H No ClinGen
gnomAD
CA2476878
rs375750183
613 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353023842
rs1577601075
613 I>V No ClinGen
Ensembl
TCGA novel 615 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1263467757
CA353023808
615 W>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA353023785
rs1361852892
617 Q>* No ClinGen
gnomAD
CA353023786
rs1361852892
617 Q>E No ClinGen
gnomAD
rs1316039255
CA353023767
618 A>D No ClinGen
gnomAD
CA2476876
rs779665786
619 M>V No ClinGen
ExAC
gnomAD
CA75642074
rs906307436
621 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs755549772
CA2476875
623 T>K No ClinGen
ExAC
gnomAD
CA353023703
rs755549772
623 T>M No ClinGen
ExAC
gnomAD
CA353023696
rs1390720390
624 G>E No ClinGen
gnomAD
TCGA novel
CA2476873
rs767467805
624 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
gnomAD
NCI-TCGA
CA353023689
rs1385728353
625 Q>* No ClinGen
TOPMed
CA2476872
rs757132281
627 H>N No ClinGen
ExAC
gnomAD
CA75641997
CA2476871
rs576417700
627 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 629 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs763796407
CA2476870
630 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs776683516
CA2476868
632 P>L No ClinGen
ExAC
gnomAD
CA353023635
rs1450946935
633 T>A No ClinGen
gnomAD
CA353023631
rs1265260594
633 T>I No ClinGen
TOPMed
gnomAD
rs372430600
CA2476867
634 Q>E No ClinGen
ESP
ExAC
gnomAD
rs1490465817
CA353023620
635 V>D No ClinGen
gnomAD
rs760690580
CA2476866
636 Q>R No ClinGen
ExAC
gnomAD
CA353023595
rs1562002082
639 N>D No ClinGen
Ensembl
CA2476864
rs142524771
640 A>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2476863
rs142524771
640 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1357195457
CA353023580
641 K>R No ClinGen
TOPMed
CA2476862
rs529123568
642 G>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1562001322
CA353023555
645 V>L No ClinGen
Ensembl
CA2476858
rs755744968
646 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs755744968
CA2476859
646 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA2476854
rs751489838
649 D>G No ClinGen
ExAC
gnomAD
rs757255213
CA2476855
649 D>N No ClinGen
ExAC
gnomAD
CA2476852
rs758155374
652 I>L No ClinGen
ExAC
CA353023514
rs758155374
652 I>V No ClinGen
ExAC
TCGA novel 657 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1015833872
CA75633664
657 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
CA2476830
rs778763864
662 K>R No ClinGen
ExAC
gnomAD
rs1168476602
CA353023129
663 H>R No ClinGen
gnomAD
CA2476829
rs756461116
666 D>E No ClinGen
ExAC
gnomAD
CA2476828
rs750651093
670 S>A No ClinGen
ExAC
TOPMed
gnomAD
COSM1197635
COSM1197634
rs1472586855
CA353023077
670 S>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs767746311
CA2476827
671 S>F No ClinGen
ExAC
gnomAD
CA2476826
rs762016527
672 N>D No ClinGen
ExAC
gnomAD
CA353023052
rs1461865777
674 C>F No ClinGen
gnomAD
CA2476825
rs751611355
675 N>D No ClinGen
ExAC
gnomAD
CA2476824
rs764524930
675 N>S No ClinGen
ExAC
gnomAD
TCGA novel 678 H>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 678 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM4119747
rs376619081
CA2476821
COSM4119748
679 A>T ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA75633613
rs200179449
680 S>F No ClinGen
Ensembl
rs371505343
CA75633607
683 E>D No ClinGen
ESP
TOPMed
gnomAD
rs770518891
CA2476818
684 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA2476819
rs751279751
684 M>T No ClinGen
ExAC
gnomAD
rs759239403
CA2476820
684 M>V No ClinGen
ExAC
gnomAD
COSM480528
rs182039177
COSM480529
CA2476817
687 R>C kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2476816
COSM1425034
rs573592664
COSM1425035
687 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1238177821
CA353022964
688 L>F No ClinGen
gnomAD
CA353022935
rs1329663840
692 H>Y No ClinGen
TOPMed
CA353022924
rs1445270474
693 R>S No ClinGen
gnomAD
rs778622264
CA2476813
697 S>T No ClinGen
ExAC
gnomAD
TCGA novel 700 C>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs987619083
CA75632408
702 G>S No ClinGen
TOPMed
CA353021994
rs1217277148
703 W>C No ClinGen
gnomAD
rs760368296
CA2476796
709 V>E No ClinGen
ExAC
gnomAD
CA353021779
rs1347095955
711 V>A No ClinGen
gnomAD
TCGA novel 713 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476791
rs768666285
COSM1425032
COSM1425033
717 A>T Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 717 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353021648
rs1455375755
718 R>* No ClinGen
TOPMed
gnomAD
CA353021646
rs1345515862
718 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1345866510
CA353021632
720 G>R No ClinGen
gnomAD
rs1175909494
CA353021604
722 R>Q No ClinGen
TOPMed
gnomAD
CA2476790
rs749110612
724 C>Y No ClinGen
ExAC
gnomAD
CA75632314
rs924561165
728 L>F No ClinGen
TOPMed
gnomAD
CA353021506
rs1386786235
730 Y>S No ClinGen
TOPMed
gnomAD
TCGA novel 732 R>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476788
rs757623234
732 R>T No ClinGen
ExAC
gnomAD
CA2476786
rs777768926
733 D>E No ClinGen
ExAC
gnomAD
CA2476787
rs747244589
733 D>G No ClinGen
ExAC
gnomAD
rs1561773218
CA353021449
735 L>F No ClinGen
Ensembl
COSM3714668
CA2476785
COSM3714669
rs758477480
737 R>W ovary upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2476784
rs752667139
738 A>T No ClinGen
ExAC
gnomAD
rs1293617971
CA353021407
739 E>K No ClinGen
gnomAD
CA2476781
rs142586678
742 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1188761103
CA353021335
744 I>V No ClinGen
TOPMed
gnomAD
rs1418278777
CA353021306
746 P>T No ClinGen
TOPMed
rs766727839
CA2476780
751 Y>* No ClinGen
ExAC
gnomAD
CA353021220
rs1408917600
752 S>T No ClinGen
gnomAD
CA2476778
rs772898935
759 H>R No ClinGen
ExAC
gnomAD
rs1161323815
CA353021057
764 R>K No ClinGen
TOPMed
rs1460942463
CA353017370
765 P>S No ClinGen
gnomAD
CA2476737
rs765236986
767 G>V No ClinGen
ExAC
gnomAD
rs1324648545
CA353017291
769 G>V No ClinGen
gnomAD
rs759381698
CA2476736
773 V>F No ClinGen
ExAC
gnomAD
TCGA novel 775 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476735
rs776557778
776 K>Q No ClinGen
ExAC
gnomAD
rs770603309
CA2476734
776 K>R No ClinGen
ExAC
gnomAD
CA75624112
rs865887166
777 E>K No ClinGen
Ensembl
CA2476733
rs774579772
778 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs374035152
CA2476730
778 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs374035152
CA2476731
778 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2476732
rs774579772
778 R>S No ClinGen
ExAC
gnomAD
TCGA novel 779 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476729
rs148300961
781 E>A No ClinGen
ESP
ExAC
gnomAD
CA2476728
rs142653808
783 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746355673
CA2476727
783 K>R No ClinGen
ExAC
gnomAD
CA2476726
rs781648951
785 R>K No ClinGen
ExAC
gnomAD
CA2476724
CA2476725
rs751920649
785 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA353016991
COSM278442
COSM278441
rs1411500518
787 R>* Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs777596271
CA2476723
787 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1561549798
CA353016931
789 L>Q No ClinGen
Ensembl
rs758071026
CA2476722
790 L>V No ClinGen
ExAC
gnomAD
rs1383473233
CA353016810
794 I>F No ClinGen
gnomAD
rs35912235
CA2476721
795 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2476720
rs764651868
795 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA353016782
rs1202843167
796 H>R No ClinGen
gnomAD
CA75624030
rs908397389
796 H>Y No ClinGen
TOPMed
gnomAD
rs1577092688
CA353015606
800 C>Y No ClinGen
Ensembl
TCGA novel 803 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353015520
rs1256267990
804 G>D No ClinGen
gnomAD
TCGA novel 804 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476699
rs766308486
805 R>Q No ClinGen
ExAC
gnomAD
rs1413396998
CA353015484
806 P>R No ClinGen
gnomAD
CA2476698
rs755988090
806 P>S No ClinGen
ExAC
gnomAD
TCGA novel 807 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296527864
CA353015443
808 G>A No ClinGen
TOPMed
rs995827207
CA75623089
809 A>S No ClinGen
TOPMed
CA353015362
rs1340040116
812 A>V No ClinGen
TOPMed
CA2476697
rs750276180
813 T>I No ClinGen
ExAC
gnomAD
CA75623086
rs760619126
814 L>H No ClinGen
ExAC
gnomAD
TCGA novel 814 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476696
rs760619126
814 L>R No ClinGen
ExAC
gnomAD
rs1325640375
CA353015328
814 L>V No ClinGen
TOPMed
gnomAD
rs1280876995
CA353015284
817 L>S No ClinGen
TOPMed
rs918859458
CA75622798
820 V>I No ClinGen
Ensembl
CA75622782
rs974321249
822 M>K No ClinGen
Ensembl
TCGA novel 824 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476681
rs756110830
825 I>M No ClinGen
ExAC
TOPMed
gnomAD
CA353015011
rs1577086027
825 I>T No ClinGen
Ensembl
CA2476680
rs750327475
828 P>L No ClinGen
ExAC
gnomAD
CA353014908
rs1561524593
831 Q>R No ClinGen
Ensembl
CA2476677
rs751324960
832 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs765379258
CA2476676
833 E>D No ClinGen
ExAC
gnomAD
rs372013976
CA2476675
834 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2476674
rs567780877
835 K>E No ClinGen
1000Genomes
ExAC
gnomAD
rs13082830
CA75622731
837 V>D No ClinGen
Ensembl
rs1425225580
CA353014739
838 I>F No ClinGen
TOPMed
rs766539208
CA2476673
839 R>C No ClinGen
ExAC
gnomAD
COSM287401
rs184805711
COSM287402
CA2476672
839 R>H ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2476670
rs772669319
841 C>S No ClinGen
ExAC
gnomAD
rs1367477382
CA353014599
844 Q>* No ClinGen
TOPMed
rs762089492
CA353014579
CA2476669
844 Q>H No ClinGen
ExAC
gnomAD
CA2476668
rs774721337
846 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353014527
rs1161100134
847 L>F No ClinGen
gnomAD
rs149875451
CA75622692
848 V>L No ClinGen
ESP
TOPMed
gnomAD
rs150724919
CA2476667
849 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs539731981
CA75622691
850 Y>C No ClinGen
gnomAD
rs1172349398
CA353014426
851 S>C No ClinGen
gnomAD
CA75622683
rs201178310
852 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2476663
rs201178310
852 R>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3775318
CA2476664
rs779578391
COSM3775317
852 R>W Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 854 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs781136889
CA2476661
855 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA2476662
rs201778092
855 E>K No ClinGen
ExAC
gnomAD
TCGA novel 856 Y>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA75622665
rs755928119
860 E>K No ClinGen
gnomAD
CA353012342
rs1561478809
862 N>D No ClinGen
Ensembl
rs752081344
CA2476632
863 Q>E No ClinGen
ExAC
gnomAD
CA2476630
rs375222372
863 Q>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA353012305
rs1387531420
863 Q>R No ClinGen
TOPMed
gnomAD
rs1014154638
CA353009222
868 N>K No ClinGen
TOPMed
CA353009217
rs1372604239
869 V>L No ClinGen
gnomAD
CA353009192
rs1312753756
870 G>D No ClinGen
TOPMed
rs376024808
CA2476615
871 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2476616
rs781177687
COSM3357744
COSM3357743
871 R>W haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs1308896591
CA353009163
873 I>F No ClinGen
gnomAD
CA2476614
rs139990093
873 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs199920092
CA2476612
874 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1202939215
CA353009146
874 T>P No ClinGen
TOPMed
CA2476613
rs199920092
874 T>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA2476611
rs753114055
876 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA353009085
rs1157369955
877 K>R No ClinGen
gnomAD
TCGA novel 879 L>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 879 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 882 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1198254110
CA353009009
882 T>K No ClinGen
gnomAD
CA75610641
rs201388081
884 R>C No ClinGen
ExAC
gnomAD
CA2476606
rs142613294
884 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2476607
rs201388081
884 R>S No ClinGen
ExAC
gnomAD
CA2476605
rs371103619
886 A>V No ClinGen
ESP
ExAC
gnomAD
rs772540253
CA2476604
888 L>P No ClinGen
ExAC
rs1188614885
CA353008921
890 I>V No ClinGen
TOPMed
rs1407850987
CA353008902
891 E>A No ClinGen
TOPMed
COSM1047944
COSM1047943
rs1229955756
CA353008877
893 L>I Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA2476601
rs774327812
898 E>V No ClinGen
ExAC
gnomAD
rs748984742
CA2476599
899 H>N No ClinGen
ExAC
gnomAD
CA2476597
rs747123779
901 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA2476596
rs747123779
901 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs1303853851
CA353007630
904 H>Y No ClinGen
gnomAD
rs1387343262
CA353007618
905 V>A No ClinGen
TOPMed
CA2476581
rs374261190
906 D>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA75606528
rs772245834
907 K>E No ClinGen
Ensembl
rs1368360851
CA353007604
907 K>N No ClinGen
TOPMed
gnomAD
rs867944914
CA353007599
908 G>E No ClinGen
TOPMed
CA75606522
rs867944914
908 G>V No ClinGen
TOPMed
CA2476580
rs775085902
909 E>K No ClinGen
ExAC
gnomAD
rs180960336
CA75605664
910 A>S No ClinGen
1000Genomes
ExAC
gnomAD
rs180960336
CA2476560
910 A>T No ClinGen
1000Genomes
ExAC
gnomAD
CA2476559
rs773456732
911 F>L No ClinGen
ExAC
gnomAD
rs748244005
CA2476558
912 A>G No ClinGen
ExAC
TOPMed
gnomAD
rs748244005
CA2476557
912 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA353006969
rs1330190217
915 S>* No ClinGen
gnomAD
rs1561189321
CA353006963
916 D>N No ClinGen
Ensembl
CA353006929
rs1576769251
918 M>T No ClinGen
Ensembl
CA353006910
rs1320985340
919 V>A No ClinGen
gnomAD
CA353006908
rs1388029743
920 E>K No ClinGen
gnomAD
rs769272343
CA2476555
922 A>V No ClinGen
ExAC
gnomAD
rs746760146
COSM304381
CA2476553
COSM304382
924 T>M large_intestine prostate [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2476549
rs185042172
928 L>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs965276965
CA75605605
929 F>V No ClinGen
gnomAD
TCGA novel 930 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1268592984
CA353006746
932 D>G No ClinGen
gnomAD
rs373416442
CA75605598
932 D>N No ClinGen
ESP
gnomAD
TCGA novel 932 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1208668345
CA353006714
934 D>G No ClinGen
gnomAD
rs1298303902
CA353006705
935 A>P No ClinGen
TOPMed
CA2476547
rs763689385
935 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1405747544
CA353006687
936 A>G No ClinGen
gnomAD
CA353006675
rs1209799795
938 E>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2476544
rs765183785
941 P>H No ClinGen
ExAC
TOPMed
gnomAD
CA2476545
rs765183785
941 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767786545
CA2476541
947 S>N No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 948 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1296307647
CA353006540
948 F>V No ClinGen
gnomAD
rs774456022
CA2476539
950 L>V No ClinGen
ExAC
gnomAD
rs1401717460
CA353006437
956 D>N No ClinGen
TOPMed
gnomAD
rs749339449
CA2476537
959 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs376315928
COSM1047939
COSM1047940
CA2476536
959 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs376315928
CA353006388
959 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs200922509
CA2476516
969 F>L No ClinGen
1000Genomes
ExAC
gnomAD
CA2476515
rs770261939
971 K>Q No ClinGen
ExAC
gnomAD
rs138691556
CA75604604
972 H>Y No ClinGen
ESP
TOPMed
gnomAD
rs376296834
CA75604597
974 Q>E No ClinGen
ESP
TOPMed
gnomAD
TCGA novel 974 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs376296834
CA353006219
974 Q>K No ClinGen
ESP
TOPMed
gnomAD
CA2476513
rs777171428
974 Q>R No ClinGen
ExAC
gnomAD
CA353006207
CA2476512
rs771397571
975 D>E No ClinGen
ExAC
gnomAD
TCGA novel 978 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 982 V>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1339207966
CA353006167
982 V>L No ClinGen
TOPMed
CA353006143
rs1265380864
985 V>A No ClinGen
gnomAD
rs1384204860
CA353006130
987 L>P No ClinGen
TOPMed
rs1036402798
CA75604583
989 E>D No ClinGen
gnomAD
CA353006068
rs1165315843
992 I>T No ClinGen
gnomAD
CA353006075
rs1224570625
992 I>V No ClinGen
TOPMed
gnomAD
CA353006020
rs1344769170
995 S>A No ClinGen
gnomAD
rs771701556
CA2476509
999 G>S No ClinGen
ExAC
TOPMed
gnomAD
CA75604576
rs144078102
999 G>V No ClinGen
ESP
TOPMed
gnomAD
rs747672464
CA2476508
1002 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1232952891
CA353005906
1002 R>W No ClinGen
gnomAD
rs778482031
CA2476507
1008 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs1449775502
CA353005810
COSM1047936
COSM1047935
1008 V>I endometrium Variant assessed as Somatic; 4.625e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs748759001
CA2476486
1010 S>G No ClinGen
ExAC
gnomAD
CA2476485
rs751130300
1010 S>I No ClinGen
ExAC
gnomAD
CA353022634
rs1404985212
1012 T>S No ClinGen
gnomAD
CA75658011
rs1019142663
1013 S>G No ClinGen
TOPMed
CA2476482
rs77008736
1017 N>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA2476483
rs77008736
1017 N>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs999789507
CA75657972
1018 V>M No ClinGen
TOPMed
CA353022482
rs1426654805
1021 P>T No ClinGen
gnomAD
rs1470971454
CA353022463
1022 N>D No ClinGen
gnomAD
rs752937730
CA2476480
1022 N>I No ClinGen
ExAC
TOPMed
gnomAD
CA353022438
rs1368078937
1023 V>L No ClinGen
TOPMed
CA2476476
rs753914427
1028 V>I No ClinGen
ExAC
gnomAD
rs1486075591
CA353022326
1029 P>S No ClinGen
gnomAD
rs1261475586
CA353022282
1032 P>T No ClinGen
gnomAD
CA2476474
rs761244804
1036 P>L No ClinGen
ExAC
gnomAD
CA75657907
rs868827229
1036 P>S No ClinGen
gnomAD
CA353022194
rs868827229
1036 P>T No ClinGen
gnomAD
CA2476472
rs767902686
1037 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA353022125
rs1296047822
1040 P>S No ClinGen
gnomAD
CA353022105
rs1363072804
1041 Q>* No ClinGen
gnomAD
CA2476471
rs762036394
1042 M>I No ClinGen
ExAC
gnomAD
TCGA novel 1042 M>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1302697663
CA353022082
1042 M>V No ClinGen
gnomAD
CA353022005
rs1360587095
1045 F>L No ClinGen
gnomAD
CA2476470
rs373178609
1046 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA2476468
rs748808363
1047 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2476467
rs774966536
1047 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA75657840
COSM446959
rs916748914
1048 P>L Variant assessed as Somatic; 0.0 impact. large_intestine endometrium breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1179943976
CA353021894
1050 W>G No ClinGen
gnomAD
rs1409825299
CA353021859
1051 M>V No ClinGen
Ensembl
TCGA novel 1053 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780894973
CA2476464
1054 I>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs757094635
CA2476463
1054 I>T No ClinGen
ExAC
gnomAD
rs779293996
CA2476461
1055 Y>C No ClinGen
ExAC
gnomAD
rs746738362
CA2476462
1055 Y>H No ClinGen
ExAC
TOPMed
gnomAD
CA353021723
rs1308638231
1057 A>T No ClinGen
gnomAD
CA2476459
rs375576173
COSM3940616
1057 A>V Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 1058 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1073 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM193675
rs147087123
COSM273629
CA2476432
1073 A>T Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353020421
rs1208565255
1076 T>N No ClinGen
gnomAD
rs577817819
CA2476430
1078 I>M No ClinGen
1000Genomes
ExAC
gnomAD
CA353020343
rs1274166986
1078 I>V No ClinGen
gnomAD
CA353020323
rs1380591245
1079 R>Q No ClinGen
gnomAD
CA353020280
rs148430862
1080 D>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1326587557
CA353020284
1080 D>G No ClinGen
TOPMed
gnomAD
rs1326587557
CA353020282
1080 D>V No ClinGen
TOPMed
gnomAD
CA353020265
rs1239061728
1081 L>V No ClinGen
TOPMed
gnomAD
CA2476428
rs775993860
1082 H>R No ClinGen
ExAC
gnomAD
TCGA novel 1083 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1298638581
CA353020174
1085 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA2476427
rs770971642
1087 E>D No ClinGen
ExAC
gnomAD
rs1157689950
CA353019996
1090 K>E No ClinGen
TOPMed
gnomAD
CA2476426
rs760662640
1095 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1034439787
CA75654694
1099 M>T No ClinGen
TOPMed
rs868478167
CA75654671
1102 D>G No ClinGen
Ensembl
TCGA novel 1102 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773195036
CA2476425
1103 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA2476423
rs747913353
1105 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs746365672
CA75654651
1107 C>Y No ClinGen
Ensembl
CA353019440
rs1454556060
1109 K>I No ClinGen
gnomAD
CA353019442
rs1454556060
1109 K>R No ClinGen
gnomAD
CA353019443
rs1454556060
1109 K>T No ClinGen
gnomAD
CA2476404
rs149931152
1113 I>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs781377421
CA2476403
1114 A>S No ClinGen
ExAC
TOPMed
gnomAD
rs781377421
CA2476402
1114 A>T No ClinGen
ExAC
TOPMed
gnomAD
CA2476401
rs771021661
1118 K>E No ClinGen
ExAC
gnomAD
rs151301388
COSM1425026
CA2476400
COSM1425027
1122 T>N Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA75650996
rs201181624
1124 R>* No ClinGen
gnomAD
rs778256058
CA2476399
1124 R>P No ClinGen
ExAC
TOPMed
gnomAD
COSM3427826
rs778256058
COSM3427825
CA353018515
1124 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1692940
COSM1692939
CA2476397
rs748581222
1129 R>* Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs367714345
CA2476396
1129 R>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs753456107
CA2476394
1132 Q>P No ClinGen
ExAC
gnomAD
CA353018404
rs753456107
1132 Q>R No ClinGen
ExAC
gnomAD
rs766019189
CA2476393
1133 S>P No ClinGen
ExAC
gnomAD
TCGA novel 1134 I>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416638600
CA353018379
1134 I>T No ClinGen
gnomAD
CA2476392
rs199647496
1134 I>V No ClinGen
1000Genomes
ExAC
gnomAD
CA353018365
rs1313557880
1135 C>Y No ClinGen
gnomAD
CA2476391
rs534391982
1138 F>C No ClinGen
1000Genomes
ExAC
gnomAD
rs112585082
CA2476390
1138 F>L No ClinGen
ExAC
gnomAD
CA2476389
rs761834820
1140 V>I No ClinGen
ExAC
gnomAD
CA353018249
rs1400604418
1141 M>L No ClinGen
TOPMed
rs763771626
CA2476387
1142 V>I No ClinGen
ExAC
gnomAD
CA353018163
rs1415134254
1144 A>G No ClinGen
gnomAD
TCGA novel 1147 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1148 S>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1250386400
CA353018056
1149 T>K No ClinGen
TOPMed
gnomAD
rs1201886217
CA353017968
1154 M>T No ClinGen
gnomAD
CA2476384
rs368477906
1155 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
rs1003757145
CA75650833
1155 E>V No ClinGen
Ensembl
rs376363470
CA2476383
1156 M>K No ClinGen
ESP
ExAC
TOPMed
rs376363470
CA2476382
1156 M>T No ClinGen
ESP
ExAC
TOPMed
CA353017902
rs1439442118
1157 G>D No ClinGen
gnomAD
CA353017892
rs1208950713
1158 Q>* No ClinGen
gnomAD
rs1208950713
CA353017896
1158 Q>K No ClinGen
gnomAD
rs779428191 1159 E>= Variant assessed as Somatic; 0.0005061 impact. [NCI-TCGA] No NCI-TCGA
CA2476380
rs748581967
1159 E>K Variant assessed as Somatic; 0.002762 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1211756666
CA353016367
1161 Q>P No ClinGen
gnomAD
rs1250163102
CA353016329
1162 Y>C No ClinGen
gnomAD
TCGA novel 1164 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
RCV000660540
rs1553773676
1165 K>* No ClinVar
dbSNP
CA2476313
rs774478977
COSM731758
COSM731759
1166 I>T lung [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA2476312
rs200712817
1167 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs776043383
CA2476310
1168 E>A No ClinGen
ExAC
gnomAD
CA2476309
rs770301757
1169 L>V No ClinGen
ExAC
gnomAD
CA2476308
rs746190980
1170 I>T No ClinGen
ExAC
gnomAD
TCGA novel 1172 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1394198286
CA353015989
1173 T>S No ClinGen
gnomAD
CA2476305
rs746556427
1175 K>E No ClinGen
ExAC
TOPMed
gnomAD
rs1439113081
CA353015939
1175 K>T No ClinGen
TOPMed
TCGA novel 1176 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476304
rs777331057
1177 M>K No ClinGen
ExAC
gnomAD
CA353015851
rs1311883660
1178 I>K No ClinGen
TOPMed
rs1162606599
CA353015857
1178 I>V No ClinGen
gnomAD
CA353015811
rs1420304514
1181 L>F No ClinGen
gnomAD
CA353015802
rs1448126960
1182 V>A No ClinGen
TOPMed
gnomAD
rs770554516 1185 F>= Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA2476288
rs777122141
1185 F>L No ClinGen
ExAC
gnomAD
rs574220713
CA2476286
1186 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs772693397
CA2476285
1188 I>V No ClinGen
ExAC
gnomAD
CA353015631
rs1346971953
1190 E>D No ClinGen
gnomAD
CA353015591
rs1443081345
1192 V>M No ClinGen
gnomAD
CA353015481
rs1158576022
1198 R>I No ClinGen
Ensembl
COSM731761
COSM731760
rs902090459
CA75643081
1201 E>K lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM1047923
COSM1047924
CA75643053
rs761920713
1208 F>L endometrium [Cosmic] No ClinGen
cosmic curated
Ensembl
TCGA novel 1209 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754901644
CA2476281
1209 L>P No ClinGen
ExAC
gnomAD
rs940378954
CA75643045
1211 F>L No ClinGen
Ensembl
TCGA novel 1216 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA2476257
rs144155979
1218 K>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA2476255
rs755590141
1221 D>A No ClinGen
ExAC
gnomAD
CA353008184
rs1576043808
1224 K>N No ClinGen
Ensembl
CA75619524
rs757765489
1224 K>Q No ClinGen
TOPMed
rs774846596
CA2476211
1225 P>H No ClinGen
ExAC
gnomAD
CA2476209
rs566247034
1226 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs201724714
CA75619493
1228 D>E No ClinGen
ExAC
CA2476206
rs771045473
1229 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA2476207
rs771045473
1229 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs779293832
CA2476205
1231 D>N No ClinGen
ExAC
gnomAD
rs1238715963
CA353008084
1232 A>T Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs749452981
CA2476203
1236 F>S No ClinGen
ExAC
gnomAD
CA2476201
rs756697221
1237 V>I No ClinGen
ExAC
TOPMed
COSM1642332
CA353008007
rs1188476583
COSM1642333
1238 R>C stomach [Cosmic] No ClinGen
cosmic curated
TOPMed
CA353007999
rs1256556991
1238 R>L No ClinGen
gnomAD
CA353007958
rs1254707213
1241 Q>L No ClinGen
gnomAD
rs750918281
CA2476200
1244 L>V No ClinGen
ExAC
gnomAD
CA353007912
rs1190512729
1245 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA353007910
rs1190512729
1245 R>L No ClinGen
TOPMed
rs781637391
CA2476199
1246 D>N No ClinGen
ExAC
gnomAD
rs1390894524
CA353007875
1248 V>A No ClinGen
TOPMed
rs751860249
CA2476197
1248 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs751860249
CA75619357
1248 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1475353469
CA353007843
1252 M>I No ClinGen
TOPMed
rs763791039
CA2476196
1252 M>T No ClinGen
ExAC
gnomAD
CA2476195
rs762508377
1254 I>T No ClinGen
ExAC
gnomAD
CA353007789
rs1234264719
1259 D>E No ClinGen
gnomAD
rs747437965
CA2476174
1261 W>R No ClinGen
ExAC
gnomAD
TCGA novel 1262 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA353023411
rs1216926669
1263 N>H No ClinGen
gnomAD
rs1311812728
CA353023407
1263 N>S No ClinGen
gnomAD
rs199626657
CA2476173
1264 S>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353023403
rs199626657
1264 S>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1377205076
CA353023401
1264 S>T No ClinGen
gnomAD
rs1176471383
CA353023384
1266 M>I No ClinGen
gnomAD
rs558289554
CA2476172
1268 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs752313498
CA2476171
1271 T>A No ClinGen
ExAC
gnomAD
rs764902930
CA2476170
1272 W>* No ClinGen
ExAC
gnomAD
rs754461043
CA2476169
1274 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs150776949
CA75629343
1275 D>E No ClinGen
ESP
TCGA novel 1275 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA75629321
rs566731837
1276 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353023314
rs1258318088
1277 M>K No ClinGen
gnomAD
CA75629317
rs992421878
1278 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1307255630
CA353023276
1282 H>R No ClinGen
gnomAD
CA2476165
rs773193357
1283 I>V No ClinGen
ExAC
gnomAD
rs767242642
CA2476164
1284 Y>F No ClinGen
ExAC
gnomAD
rs1349647484
CA353023256
1285 Q>P No ClinGen
TOPMed
rs761631358
CA2476163
1287 K>I No ClinGen
ExAC
gnomAD
CA2476162
rs775583072
1288 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs201703105
CA75629272
1292 M>I No ClinGen
1000Genomes
rs1211434629
CA353022836
1297 Y>N No ClinGen
TOPMed
gnomAD
TCGA novel 1300 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs141301525
CA2476131
COSM1047921
COSM1047922
1301 R>* Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
CA2476130
COSM446955
rs755694732
COSM446956
1301 R>Q Variant assessed as Somatic; 0.0 impact. urinary_tract breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
TCGA novel 1306 L>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1311396812
CA353022706
1307 D>Y No ClinGen
TOPMed
gnomAD
CA2476125
rs763926479
1309 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA2476126
rs763926479
1309 T>S No ClinGen
ExAC
TOPMed
gnomAD
CA2476127
rs757210914
1309 T>S No ClinGen
ExAC
gnomAD
CA75626931
rs902143375
1314 T>N No ClinGen
Ensembl
CA75626926
rs376832211
1315 Y>C No ClinGen
ESP
TOPMed
gnomAD
rs754090010
CA2476123
1315 Y>H No ClinGen
ExAC
gnomAD
rs148752175
CA2476122
1317 T>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA353022498
rs1575521833
1318 I>T No ClinGen
Ensembl
CA2476119
COSM1738918
COSM1738919
rs772497329
1319 R>Q Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs773337761
CA2476120
1319 R>W No ClinGen
ExAC
gnomAD
CA353022470
rs1575521698
1320 N>T No ClinGen
Ensembl
COSM1047919
CA353022451
COSM1047920
rs1192160113
1321 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA353022392
rs1575521539
1324 V>G No ClinGen
Ensembl
CA353022312
rs1267652273
1329 A>S No ClinGen
gnomAD
rs774675078
CA2476117
1330 S>L No ClinGen
ExAC
gnomAD
CA2476116
rs769177137
1334 G>A No ClinGen
ExAC
gnomAD
CA353022214
rs1487780014
1334 G>S No ClinGen
gnomAD
rs1248327845
CA353022182
1336 G>V No ClinGen
Ensembl
CA2476115
rs749601515
1339 G>D No ClinGen
ExAC
gnomAD
CA75626866
rs1039388242
1340 I>N No ClinGen
Ensembl
CA353022122
rs1235187285
1340 I>V No ClinGen
gnomAD
TCGA novel 1341 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs944534060
CA75626858
1344 D>N No ClinGen
Ensembl
CA2476112
rs554950742
1346 D>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA353021938
rs1381906896
1347 E>K No ClinGen
gnomAD
rs780719627
CA353021869
1349 D>E No ClinGen
ExAC
TOPMed
gnomAD
COSM231942
COSM231943
CA2476110
rs147103435
1350 E>K oesophagus skin Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA353021830
rs1375376847
1351 E>K No ClinGen
gnomAD
rs768330044
CA75626826
1352 D>G No ClinGen
Ensembl
CA2476108
rs777645997
1353 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1191982427
CA353021753
1354 D>Q No ClinGen
gnomAD

No associated diseases with Q9ULU8

4 regional properties for Q9ULU8

Type Name Position InterPro Accession
domain C2 domain 380 - 495 IPR000008
domain Pleckstrin homology domain 521 - 626 IPR001849
domain MUN domain 835 - 1300 IPR010439
domain Munc13 homology 1 931 - 1111 IPR014770

Functions

Description
EC Number
Subcellular Localization
  • Synapse
  • Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle membrane ; Peripheral membrane protein
  • Membrane-associated to vesicles
  • Strongly enriched in synaptic fractions
  • Preferentially binds to dense core vesicles but not to synaptic vesicles
  • Binds phosphoinosides, with a strong selectivity for PtdIns(4,5)P2 over PtdIns(3,4,5)P3
  • Probably localizes to different vesicles compared to CADPS2
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
anchoring junction A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
glutamatergic synapse A synapse that uses glutamate as a neurotransmitter.
neuronal dense core vesicle membrane The lipid bilayer surrounding a neuronal dense core vesicle.
presynapse The part of a synapse that is part of the presynaptic cell.

3 GO annotations of molecular function

Name Definition
lipid binding Binding to a lipid.
metal ion binding Binding to a metal ion.
protein kinase binding Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.

5 GO annotations of biological process

Name Definition
dense core granule exocytosis The secretion of molecules (e.g. neuropeptides, insulin-related peptides or neuromodulators such as serotonin and dopamine) contained within a membrane-bounced dense core granule by fusion of the granule with the plasma membrane of a cell in response to increased cytosolic calcium levels.
exocytosis A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell.
positive regulation of exocytosis Any process that activates or increases the frequency, rate or extent of exocytosis.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
synaptic vesicle exocytosis Fusion of intracellular membrane-bounded vesicles with the pre-synaptic membrane of the neuronal cell resulting in release of neurotransmitter into the synaptic cleft.

3 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q8BYR5 Cadps2 Calcium-dependent secretion activator 2 Mus musculus (Mouse) PR
Q80TJ1 Cadps Calcium-dependent secretion activator 1 Mus musculus (Mouse) PR
Q62717 Cadps Calcium-dependent secretion activator 1 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MLDPSSSEEE SDEIVEEESG KEVLGSAPSG ARLSPSRTSE GSAGSAGLGG GGAGAGAGVG
70 80 90 100 110 120
AGGGGGSGAS SGGGAGGLQP SSRAGGGRPS SPSPSVVSEK EKEELERLQK EEEERKKRLQ
130 140 150 160 170 180
LYVFVMRCIA YPFNAKQPTD MARRQQKISK QQLQTVKDRF QAFLNGETQI MADEAFMNAV
190 200 210 220 230 240
QSYYEVFLKS DRVARMVQSG GCSANDSREV FKKHIEKRVR SLPEIDGLSK ETVLSSWMAK
250 260 270 280 290 300
FDAIYRGEED PRKQQARMTA SAASELILSK EQLYEMFQNI LGIKKFEHQL LYNACQLDNP
310 320 330 340 350 360
DEQAAQIRRE LDGRLQMADQ IARERKFPKF VSKEMENMYI EELKSSVNLL MANLESMPVS
370 380 390 400 410 420
KGGEFKLQKL KRSHNASIID MGEESENQLS KSDVVLSFSL EVVIMEVQGL KSLAPNRIVY
430 440 450 460 470 480
CTMEVEGGEK LQTDQAEASK PTWGTQGDFS TTHALPAVKV KLFTESTGVL ALEDKELGRV
490 500 510 520 530 540
ILHPTPNSPK QSEWHKMTVS KNCPDQDLKI KLAVRMDKPQ NMKHSGYLWA IGKNVWKRWK
550 560 570 580 590 600
KRFFVLVQVS QYTFAMCSYR EKKAEPQELL QLDGYTVDYT DPQPGLEGGR AFFNAVKEGD
610 620 630 640 650 660
TVIFASDDEQ DRILWVQAMY RATGQSHKPV PPTQVQKLNA KGGNVPQLDA PISQFYADRA
670 680 690 700 710 720
QKHGMDEFIS SNPCNFDHAS LFEMVQRLTL DHRLNDSYSC LGWFSPGQVF VLDEYCARNG
730 740 750 760 770 780
VRGCHRHLCY LRDLLERAEN GAMIDPTLLH YSFAFCASHV HGNRPDGIGT VTVEEKERFE
790 800 810 820 830 840
EIKERLRVLL ENQITHFRYC FPFGRPEGAL KATLSLLERV LMKDIVTPVP QEEVKTVIRK
850 860 870 880 890 900
CLEQAALVNY SRLSEYAKIE ENQKDAENVG RLITPAKKLE DTIRLAELVI EVLQQNEEHH
910 920 930 940 950 960
AEPHVDKGEA FAWWSDLMVE HAETFLSLFA VDMDAALEVQ PPDTWDSFPL FQLLNDFLRT
970 980 990 1000 1010 1020
DYNLCNGKFH KHLQDLFAPL VVRYVDLMES SIAQSIHRGF ERESWEPVKS LTSNLPNVNL
1030 1040 1050 1060 1070 1080
PNVNLPKVPN LPVNIPLGIP QMPTFSAPSW MAAIYDADNG SGTSEDLFWK LDALQTFIRD
1090 1100 1110 1120 1130 1140
LHWPEEEFGK HLEQRLKLMA SDMIESCVKR TRIAFEVKLQ KTSRSTDFRV PQSICTMFNV
1150 1160 1170 1180 1190 1200
MVDAKAQSTK LCSMEMGQEH QYHSKIDELI EETVKEMITL LVAKFVTILE GVLAKLSRYD
1210 1220 1230 1240 1250 1260
EGTLFSSFLS FTVKAASKYV DVPKPGMDVA DAYVTFVRHS QDVLRDKVNE EMYIERLFDQ
1270 1280 1290 1300 1310 1320
WYNSSMNVIC TWLTDRMDLQ LHIYQLKTLI RMVKKTYRDF RLQGVLDSTL NSKTYETIRN
1330 1340 1350
RLTVEEATAS VSEGGGLQGI SMKDSDEEDE EDD