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

9 structures for Q13507

Entry ID Method Resolution Chain Position Source
5ZBG EM 436 A A/B/C/D 86-921 PDB
6CUD EM 330 A A/B/C/D 86-891 PDB
6D7L EM 400 A A/B/C/D 86-921 PDB
6DJS EM 580 A A/B/C/D 86-384 PDB
7DXB EM 270 A A/B/C/D 86-921 PDB
7DXC EM 306 A A/B/C/D 86-921 PDB
7DXD EM 390 A A/B/C/D 86-921 PDB
7DXE EM 320 A A/B/C/D 352-821 PDB
AF-Q13507-F1 Predicted AlphaFoldDB

562 variants for Q13507

Variant ID(s) Position Change Description Diseaes Association Provenance
CA200152
RCV000172856
rs142339351
762 R>H Spinocerebellar ataxia type 41 [ClinVar] Yes ClinGen
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
VAR_073835
CA3064721
rs754235477
847 R>H SCA41; toxic gain of function effect [UniProt] Yes ClinGen
UniProt
ExAC
dbSNP
gnomAD
CA358053939
rs1193319891
2 S>Y No ClinGen
TOPMed
rs201517101
CA3065217
5 V>D No ClinGen
ExAC
gnomAD
CA104755863
rs967558840
8 C>G No ClinGen
TOPMed
gnomAD
CA3065216
rs754481922
9 K>R No ClinGen
ExAC
gnomAD
CA104755855
rs894473465
10 E>K No ClinGen
Ensembl
CA358053680
rs1578668270
14 V>G No ClinGen
Ensembl
CA358053687
rs1288753027
14 V>L No ClinGen
gnomAD
CA104755835
rs372659964
15 T>I No ClinGen
Ensembl
rs1020449110
CA104755828
16 F>L No ClinGen
TOPMed
CA358053660
rs1020449110
16 F>V No ClinGen
TOPMed
CA358053626
rs1347257491
17 P>L No ClinGen
gnomAD
rs1461310602
CA358053590
19 P>L No ClinGen
gnomAD
TCGA novel 25 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358053465
rs1162411152
25 E>Q No ClinGen
gnomAD
CA104755817
rs1038325928
26 G>D No ClinGen
TOPMed
gnomAD
CA358053444
rs1164099126
26 G>S No ClinGen
TOPMed
CA358053432
rs1185812030
27 E>K No ClinGen
gnomAD
rs1228951713
CA358053393
28 D>E No ClinGen
Ensembl
CA358053398
rs1351339343
28 D>G No ClinGen
gnomAD
CA358053382
rs1243567014
29 E>* No ClinGen
TOPMed
gnomAD
CA358053387
rs1243567014
29 E>K No ClinGen
TOPMed
gnomAD
rs1333970724
CA358053327
31 A>V No ClinGen
gnomAD
CA104755798
rs893389282
33 P>R No ClinGen
TOPMed
CA358053297
rs1271468810
33 P>S No ClinGen
gnomAD
rs1322350979
CA358053286
34 Q>* No ClinGen
gnomAD
rs1294956708
CA358053275
34 Q>R No ClinGen
gnomAD
CA358053261
rs1213255785
35 R>C No ClinGen
gnomAD
CA358053254
rs1364690878
35 R>H No ClinGen
gnomAD
rs1364690878
CA358053248
35 R>L No ClinGen
gnomAD
rs1213255785
CA358053258
35 R>S No ClinGen
gnomAD
rs1392792360
CA358053234
36 R>H No ClinGen
gnomAD
CA358053242
rs1440600621
36 R>S No ClinGen
gnomAD
CA358053213
rs1462714005
37 R>H No ClinGen
gnomAD
rs1323430188
CA358053226
37 R>S No ClinGen
gnomAD
rs1034566796
CA104755797
38 R>W No ClinGen
TOPMed
CA358053192
rs1169143600
39 G>C No ClinGen
gnomAD
CA358053196
rs1169143600
39 G>S No ClinGen
gnomAD
rs1421560760
CA358053181
40 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA358053168
rs1189201261
40 W>C No ClinGen
gnomAD
rs757957105
CA3065212
41 R>G No ClinGen
ExAC
CA358053154
rs1467832993
41 R>S No ClinGen
TOPMed
gnomAD
CA358053149
rs1578667947
42 G>R No ClinGen
Ensembl
rs754251873
CA3065211
43 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs754251873
CA358053141
43 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA358053139
rs754251873
43 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs1488930870
CA358053120
44 N>K No ClinGen
TOPMed
gnomAD
CA358053124
rs1457598190
44 N>S No ClinGen
TOPMed
rs1202510129
CA358053112
45 G>E No ClinGen
gnomAD
CA358053116
rs1005455486
45 G>R No ClinGen
gnomAD
rs1005455486
CA104755770
45 G>W No ClinGen
gnomAD
CA358053105
rs1309387876
46 G>E No ClinGen
gnomAD
rs867458970
CA104755760
46 G>R No ClinGen
Ensembl
CA358053101
rs1298950095
47 L>P No ClinGen
gnomAD
rs201270718
CA3065210
49 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs201270718
CA104755755
49 P>Q No ClinGen
ExAC
TOPMed
gnomAD
rs201270718
CA358053088
49 P>R No ClinGen
ExAC
TOPMed
gnomAD
CA358053083
rs1407337993
50 R>P No ClinGen
TOPMed
CA104755729
rs922413316
51 S>L No ClinGen
TOPMed
gnomAD
TCGA novel 51 S>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756617597
CA3065209
52 A>V No ClinGen
ExAC
gnomAD
rs1283147679
CA358053066
53 P>L No ClinGen
TOPMed
rs1013270865
CA104755728
55 Q>R No ClinGen
TOPMed
rs1578667764
CA358053043
56 R>P No ClinGen
Ensembl
rs1275919968
CA358052988
60 G>R No ClinGen
TOPMed
rs1036146442
CA104755722
62 C>Y No ClinGen
TOPMed
gnomAD
rs1412276172
CA358052893
67 S>P No ClinGen
gnomAD
CA358052859
rs1479353100
69 G>A No ClinGen
gnomAD
rs1169085054
CA358052865
69 G>R No ClinGen
gnomAD
rs753142596
CA3065208
70 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA358052826
rs1578667671
72 L>V No ClinGen
Ensembl
CA3065196
rs779409909
73 S>F No ClinGen
ExAC
TOPMed
gnomAD
rs1345331690
CA358050370
73 S>P No ClinGen
TOPMed
gnomAD
rs1167593714
CA358050354
74 M>T No ClinGen
TOPMed
rs202247535
CA104743517
74 M>V No ClinGen
Ensembl
CA3065195
rs771787491
75 E>G No ClinGen
ExAC
gnomAD
rs201126840
CA104743510
80 L>P No ClinGen
gnomAD
CA358050261
rs1397224391
81 R>G No ClinGen
TOPMed
rs1363043214
CA358050255
81 R>T No ClinGen
gnomAD
CA104743509
rs1004439563
82 R>L No ClinGen
TOPMed
gnomAD
rs199943274
CA3065194
83 M>V No ClinGen
ExAC
gnomAD
rs1187308292
CA358050165
87 R>Q No ClinGen
gnomAD
rs778212103
CA3065193
87 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA104743486
rs147387896
88 E>G No ClinGen
ESP
rs753052557
CA3065191
89 K>N No ClinGen
ExAC
TOPMed
gnomAD
CA104743469
rs201614591
90 G>S No ClinGen
Ensembl
rs781691078
CA3065190
91 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA358050106
rs1560714409
92 R>C No ClinGen
Ensembl
CA104743465
rs911188079
94 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA3065189
rs759565634
96 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA358050010
rs201170528
99 A>D No ClinGen
TOPMed
gnomAD
rs201170528
CA104743455
99 A>V No ClinGen
TOPMed
gnomAD
rs765544552
CA3065185
100 F>L No ClinGen
ExAC
TOPMed
gnomAD
rs201657874
CA3065186
100 F>V No ClinGen
ExAC
gnomAD
rs761767396
CA3065183
101 M>I No ClinGen
ExAC
gnomAD
TCGA novel 103 N>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199555519
CA3065182
103 N>S No ClinGen
1000Genomes
ExAC
gnomAD
rs768762496
CA3065181
104 D>A No ClinGen
ExAC
gnomAD
CA104743419
rs202070483
105 R>C No ClinGen
gnomAD
rs202070483
CA358049920
105 R>G No ClinGen
gnomAD
COSM1050630
CA3065180
rs200623780
105 R>H Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
CA104743395
rs1043755033
106 G>S No ClinGen
TOPMed
CA358049899
rs1578650196
107 T>P No ClinGen
Ensembl
CA3065176
rs778493911
107 T>S No ClinGen
ExAC
gnomAD
CA104743393
rs765481480
108 S>N No ClinGen
Ensembl
CA358049857
rs1578650167
110 T>P No ClinGen
Ensembl
rs200365791
CA3065175
111 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358049831
rs199670427
112 E>* No ClinGen
ExAC
gnomAD
rs201526609
CA104743367
112 E>D No ClinGen
Ensembl
CA3065172
rs199670427
112 E>K No ClinGen
ExAC
gnomAD
CA104743376
rs199670427
112 E>Q No ClinGen
ExAC
gnomAD
CA358049816
rs1456273895
113 E>K No ClinGen
gnomAD
rs1373843470
CA358049781
115 R>G No ClinGen
TOPMed
rs780198602
CA3065170
115 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA3065171
rs780198602
115 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA358049775
rs780198602
115 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs1170858390
CA358049768
116 F>L No ClinGen
TOPMed
CA358049743
rs1388868673
118 D>H No ClinGen
gnomAD
CA3065168
rs750513635
119 A>V No ClinGen
ExAC
gnomAD
CA104743344
rs867787628
121 E>K No ClinGen
Ensembl
CA358049666
rs1285464303
122 Y>F No ClinGen
gnomAD
rs760674604
CA3065163
129 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs775346133
CA3065162
129 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA104743322
rs201998131
131 M>I No ClinGen
Ensembl
CA104743325
rs201180906
131 M>T No ClinGen
TOPMed
gnomAD
rs1235577361
CA358049491
133 E>Q No ClinGen
TOPMed
CA104743320
rs200343434
135 S>C No ClinGen
ExAC
TOPMed
gnomAD
CA3065160
rs200343434
135 S>F No ClinGen
ExAC
TOPMed
gnomAD
CA358049442
rs1560714115
136 K>R No ClinGen
Ensembl
rs906903027
CA104743314
137 T>K No ClinGen
TOPMed
rs906903027
CA104743308
137 T>R No ClinGen
TOPMed
CA358049388
rs1196006080
139 N>K No ClinGen
gnomAD
CA3065158
rs770588520
140 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1466863084
CA358049306
143 V>A No ClinGen
gnomAD
TCGA novel 143 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776988235
CA3065156
143 V>M No ClinGen
ExAC
gnomAD
CA104743270
rs202016445
145 Y>C No ClinGen
Ensembl
CA104743266
rs202016445
145 Y>F No ClinGen
Ensembl
CA358049224
rs1424281879
146 M>I No ClinGen
gnomAD
rs980565857
CA104743261
147 G>S No ClinGen
Ensembl
rs756522573
CA3065154
148 Q>LVAW* No ClinGen
ExAC
CA358049181
rs1192005447
148 Q>R No ClinGen
TOPMed
rs1394514354
CA358049160
149 N>S No ClinGen
TOPMed
CA358049128
rs1191558213
151 L>R No ClinGen
gnomAD
TCGA novel 152 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780494307
CA3065151
152 Q>H No ClinGen
ExAC
gnomAD
CA358049108
rs1174118621
154 A>T No ClinGen
TOPMed
CA3065150
rs556027008
156 G>D No ClinGen
1000Genomes
ExAC
gnomAD
rs202076881
CA104743225
156 G>S No ClinGen
Ensembl
CA104743218
rs865944849
158 E>K No ClinGen
Ensembl
rs1240306939
CA358049021
160 L>V No ClinGen
gnomAD
CA104743217
rs908009388
161 E>G No ClinGen
Ensembl
rs1351817967
CA358048966
164 E>A No ClinGen
gnomAD
CA3065145
rs201636398
164 E>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3065146
rs201636398
164 E>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1038618411
CA104743191
167 L>F No ClinGen
TOPMed
CA358048926
rs1394457759
168 K>Q No ClinGen
gnomAD
CA358048879
rs1394789483
170 E>D No ClinGen
gnomAD
TCGA novel 172 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA104743172
rs141601839
173 A>E No ClinGen
ESP
TOPMed
gnomAD
CA358048849
rs141601839
173 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
TOPMed
gnomAD
CA358048845
COSM242066
rs1199183351
COSM1594231
174 R>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
COSM4155124
CA358048844
rs1436671176
COSM4155123
174 R>H kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA358048837
rs1305074971
175 I>T No ClinGen
TOPMed
CA358048840
rs1270307623
175 I>V No ClinGen
gnomAD
rs200580955
CA3065138
CA358048822
177 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358048774
rs1211984456
182 A>T No ClinGen
TOPMed
rs1360437413
CA358048741
184 S>N No ClinGen
TOPMed
gnomAD
CA3065132
rs772478792
186 G>A No ClinGen
ExAC
gnomAD
rs779146736
CA3065130
191 V>L No ClinGen
ExAC
gnomAD
TCGA novel 192 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 193 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1375366824
CA358048501
196 N>K No ClinGen
gnomAD
rs375570247
CA3065127
197 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
rs1416495965
CA358048427
201 A>S No ClinGen
TOPMed
gnomAD
rs1270164028
COSM1426656
CA358048420
201 A>V large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
CA104743115
rs933977851
202 A>V No ClinGen
TOPMed
CA3065125
rs752452853
203 S>R No ClinGen
ExAC
gnomAD
TCGA novel 205 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358048352
rs1469309386
205 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1249244286
CA358048301
209 S>R No ClinGen
gnomAD
COSM1694940
rs1183714568
COSM1694941
CA358048294
210 P>L skin [Cosmic] No ClinGen
cosmic curated
gnomAD
CA358048290
rs1483121694
211 C>Y No ClinGen
gnomAD
CA358048273
rs1256694861
213 Q>* No ClinGen
gnomAD
rs199563970
CA104743111
213 Q>R No ClinGen
Ensembl
CA358048258
rs1208669863
214 E>Q No ClinGen
gnomAD
CA3065122
rs751444947
218 D>G No ClinGen
ExAC
gnomAD
rs1348793380
CA358048188
218 D>N No ClinGen
gnomAD
rs1348793380
CA358048184
218 D>Y No ClinGen
gnomAD
COSM3781916
rs868073711
CA104743082
COSM3781917
219 D>N pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs144728749
CA358048121
221 Y>* No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3065119
rs749905737
222 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA358048073
rs1322129192
225 E>K No ClinGen
TOPMed
gnomAD
rs1399391147
CA358048044
226 D>E No ClinGen
gnomAD
rs761478541
CA3065117
226 D>Y No ClinGen
ExAC
gnomAD
CA3065116
rs199593201
228 T>K No ClinGen
ExAC
TOPMed
gnomAD
rs199593201
CA104743046
228 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199593201
CA358048023
228 T>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 231 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1578649289
CA358047931
235 T>I No ClinGen
Ensembl
CA104743013
rs967375203
236 P>R No ClinGen
TOPMed
CA3065111
rs749425539
237 I>M No ClinGen
ExAC
gnomAD
rs201189354
CA104742995
237 I>V No ClinGen
1000Genomes
rs369264817
CA3065110
240 A>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 241 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs202181300
CA104742952
244 Q>P No ClinGen
Ensembl
CA358047801
rs1215815028
245 K>R No ClinGen
TOPMed
rs1270222783
CA358047780
246 Y>* No ClinGen
gnomAD
rs868163943
COSM1594233
COSM1050624
CA104742951
247 E>K Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
rs1229265035
CA358047740
249 V>G No ClinGen
gnomAD
TCGA novel 251 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358047672
TCGA novel
rs1480352014
254 M>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
TOPMed
rs748331473
CA3065108
256 G>D No ClinGen
ExAC
gnomAD
CA358047633
rs1291513421
257 A>V No ClinGen
gnomAD
rs1230466163
CA358047628
258 R>K No ClinGen
gnomAD
CA358047624
rs1380530240
259 I>V No ClinGen
gnomAD
rs780866260
CA3065107
260 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 260 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754864506
CA3065106
261 R>L No ClinGen
ExAC
TOPMed
gnomAD
COSM1485639
rs754864506
CA358047609
261 R>Q Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1426653
rs571866879
CA3065105
262 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1185488345
CA358047595
263 H>Q No ClinGen
TOPMed
CA358047598
rs1473572236
263 H>R No ClinGen
TOPMed
CA104742921
rs200424777
265 Y>C No ClinGen
TOPMed
gnomAD
rs780010346
CA3065104
267 C>F No ClinGen
ExAC
gnomAD
rs1162075321
CA358047546
270 G>E No ClinGen
gnomAD
CA3065102
rs749960852
270 G>R No ClinGen
ExAC
gnomAD
TCGA novel 270 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358047543
rs1414401332
271 D>Y No ClinGen
gnomAD
CA3065101
rs201346610
273 M>L No ClinGen
ExAC
gnomAD
rs200018915
CA3065100
278 H>Q No ClinGen
ExAC
gnomAD
rs1578648987
CA358047478
279 D>A No ClinGen
Ensembl
TCGA novel 282 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358047448
rs1352193957
283 H>L No ClinGen
TOPMed
rs760016985
CA3065097
285 R>C No ClinGen
ExAC
gnomAD
rs200743584
CA104742898
285 R>H No ClinGen
TOPMed
gnomAD
CA358046850
rs774832979
286 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3065096
rs774832979
286 S>W No ClinGen
ExAC
gnomAD
CA3065093
rs773166832
287 R>K No ClinGen
ExAC
gnomAD
CA3065094
rs773166832
287 R>T No ClinGen
ExAC
gnomAD
CA104742869
rs75867299
289 N>D No ClinGen
1000Genomes
rs1458973762
CA358046781
291 Y>C No ClinGen
gnomAD
rs1291470168
CA358046787
291 Y>H No ClinGen
gnomAD
rs35202276
CA104742863
293 G>E No ClinGen
Ensembl
TCGA novel 294 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3065088
rs549112100
296 S>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3065087
rs549112100
296 S>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3065086
rs199754762
297 P>R No ClinGen
1000Genomes
ExAC
gnomAD
CA104742848
rs868867606
298 A>V No ClinGen
Ensembl
rs199953665
CA3065085
300 L>F No ClinGen
ExAC
gnomAD
CA358046721
rs1413526778
300 L>P No ClinGen
TOPMed
CA358046708
rs1293013073
302 L>S No ClinGen
TOPMed
CA358046694
rs1356538027
304 S>I No ClinGen
TOPMed
rs143595004
CA104742833
304 S>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1250056098
CA358046692
305 E>K No ClinGen
gnomAD
CA3065082
rs778702047
306 D>Y No ClinGen
ExAC
gnomAD
COSM1426650
rs756858799
CA358046673
307 P>L Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA3065081
rs756858799
307 P>Q No ClinGen
ExAC
gnomAD
rs756858799
CA358046674
307 P>R No ClinGen
ExAC
gnomAD
CA104742774
rs200798348
308 V>M No ClinGen
Ensembl
rs200027824
CA104742767
310 T>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
rs959568772
CA104742766
311 A>S No ClinGen
TOPMed
CA3065077
rs752000591
316 N>I No ClinGen
ExAC
gnomAD
CA3065078
rs752000591
316 N>S No ClinGen
ExAC
gnomAD
CA104742719
rs1034094432
319 A>T No ClinGen
TOPMed
gnomAD
rs766778670
CA3065076
320 K>T No ClinGen
ExAC
TOPMed
gnomAD
rs1297116223
CA358046588
322 A>T No ClinGen
gnomAD
rs773830509
CA3065074
325 E>D No ClinGen
ExAC
gnomAD
CA3065075
rs763565119
COSM420222
325 E>K Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1416931902
CA358046539
328 F>L No ClinGen
TOPMed
CA3065073
rs765662860
329 K>Q No ClinGen
ExAC
gnomAD
rs761995264
CA3065072
329 K>R No ClinGen
ExAC
gnomAD
CA3065033
rs747660378
333 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs200628425
CA3065034
COSM202872
333 R>W Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358045289
rs1578641270
336 S>C No ClinGen
Ensembl
rs781033617
CA3065032
337 M>K No ClinGen
ExAC
gnomAD
CA358045275
rs781033617
337 M>T No ClinGen
ExAC
gnomAD
CA358045241
rs1560709173
339 C>R No ClinGen
Ensembl
CA358045097
rs1312968844
348 D>N No ClinGen
gnomAD
rs779107179
CA3065029
350 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA104738313
rs201530788
350 C>G No ClinGen
Ensembl
CA358045043
rs1403632056
351 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs148910203
CA3065028
351 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358044996
rs1578641187
356 V>E No ClinGen
Ensembl
rs1578641187
CA358044994
356 V>G No ClinGen
Ensembl
rs1370733528
CA358044974
359 I>T No ClinGen
gnomAD
rs1560709105
CA358044969
360 L>P No ClinGen
Ensembl
rs1164279030
CA358044956
361 N>S No ClinGen
gnomAD
CA358044908
rs1388924258
364 L>R No ClinGen
gnomAD
CA358044795
rs1190904957
372 V>I No ClinGen
gnomAD
TCGA novel 372 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3065026
rs764572646
373 H>R No ClinGen
ExAC
gnomAD
rs760782509
CA3065025
374 R>G No ClinGen
ExAC
gnomAD
rs752749911
CA3065024
378 S>L No ClinGen
ExAC
gnomAD
rs774747811
CA104738283
380 S>N No ClinGen
Ensembl
COSM1594237
CA3065023
COSM1050617
rs145694364
381 R>C Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1582605
rs201312365
COSM1582604
CA3065022
381 R>H Variant assessed as Somatic; 0.0 impact. pancreas stomach [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA358044542
rs1210296759
382 V>L No ClinGen
gnomAD
rs1341350969
CA358044459
385 A>V No ClinGen
gnomAD
CA3065021
rs144632591
386 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 392 K>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1208736612
CA358061759
393 F>S No ClinGen
TOPMed
CA358061625
rs376302115
401 Q>H No ClinGen
ExAC
TOPMed
gnomAD
rs1183293247
CA358061634
401 Q>P No ClinGen
gnomAD
CA358061582
rs1176767907
403 L>P No ClinGen
gnomAD
rs140772812
CA3064997
405 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3064996
rs140772812
405 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs779641419
CA3064992
410 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs771732228
CA3064991
413 G>R No ClinGen
ExAC
gnomAD
rs771732228
CA358061413
413 G>S No ClinGen
ExAC
gnomAD
rs145495608
CA3064988
418 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs748593492
CA3064987
419 I>T No ClinGen
ExAC
gnomAD
CA104772048
rs199896613
419 I>V No ClinGen
Ensembl
rs1209826763
CA358061289
420 A>P No ClinGen
gnomAD
CA3064986
rs139352023
421 I>V No ClinGen
ESP
ExAC
gnomAD
rs199527931
CA3064985
423 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs201911371
CA358061205
425 V>F No ClinGen
ExAC
gnomAD
CA3064984
rs201911371
425 V>I No ClinGen
ExAC
gnomAD
rs375572086
CA3064981
426 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs758648981
CA3064982
426 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ClinGen
ExAC
gnomAD
rs150886370
CA3064979
429 V>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201593685
CA104771991
430 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
NCI-TCGA
CA3064978
rs776491340
432 G>A No ClinGen
ExAC
TOPMed
rs376542900
CA3064976
434 P>L No ClinGen
ESP
ExAC
gnomAD
CA3064975
rs150143801
438 I>F No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 439 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064973
rs745455716
441 W>* No ClinGen
ExAC
rs568641078
CA3064972
442 I>N No ClinGen
1000Genomes
ExAC
gnomAD
rs748505584
CA358061011
443 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs748505584
CA3064970
443 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs183645103
CA3064969
443 A>V No ClinGen
1000Genomes
ESP
ExAC
gnomAD
CA104771927
rs199650762
444 P>S No ClinGen
gnomAD
rs1578626252
CA358059986
450 K>R No ClinGen
Ensembl
TCGA novel 452 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1382442696
CA358059957
453 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
COSM1594239
CA104770302
rs931680572
COSM1050615
453 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA3064955
rs774053138
457 M>T No ClinGen
ExAC
rs759030673
CA3064956
457 M>V No ClinGen
ExAC
gnomAD
CA3064954
rs770537554
458 K>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 459 F>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358059866
rs1578626182
459 F>S No ClinGen
Ensembl
CA3064951
rs769078346
462 H>R No ClinGen
ExAC
gnomAD
CA104770262
rs923158266
463 A>E No ClinGen
TOPMed
gnomAD
CA358059814
rs1423410125
464 A>G No ClinGen
gnomAD
CA3064948
rs772337585
467 I>M No ClinGen
ExAC
gnomAD
CA358059782
rs1364945637
467 I>T No ClinGen
TOPMed
rs146171474
CA3064949
467 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3064947
rs745940383
468 I>N No ClinGen
ExAC
gnomAD
rs1252270423
CA358059741
471 G>D No ClinGen
gnomAD
rs1388141716
CA358059704
474 V>M No ClinGen
gnomAD
rs777557043
CA3064943
478 S>L No ClinGen
ExAC
gnomAD
CA358059587
rs1224791989
479 D>N No ClinGen
gnomAD
TCGA novel 480 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs767435026
CA3064940
482 E>A No ClinGen
ExAC
TOPMed
gnomAD
COSM1237960
rs752733418
CA3064941
COSM3428100
482 E>K thyroid Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA104770218
rs933932660
483 G>D No ClinGen
TOPMed
rs933932660
CA358059510
483 G>V No ClinGen
TOPMed
rs766044392
CA3064937
486 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1305226802
CA358059445
486 T>S No ClinGen
TOPMed
rs769010763
CA3064934
489 N>D No ClinGen
ExAC
TOPMed
gnomAD
rs1411336402
CA358059394
489 N>S No ClinGen
gnomAD
rs1336286824
CA358059376
490 I>M No ClinGen
TOPMed
rs760934358
CA3064933
491 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA3064930
rs745995701
495 Y>C No ClinGen
ExAC
gnomAD
rs772677438
CA3064931
495 Y>H No ClinGen
ExAC
gnomAD
TCGA novel 497 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1253829609
CA358059204
499 I>F No ClinGen
gnomAD
rs1253829609
CA358059206
499 I>V No ClinGen
gnomAD
COSM585556
rs1246221194
COSM1650206
CA358059160
501 R>S lung [Cosmic] No ClinGen
cosmic curated
TOPMed
rs777844665
CA3064926
502 V>A No ClinGen
ExAC
gnomAD
rs749467554
CA3064927
502 V>L No ClinGen
ExAC
gnomAD
rs749467554
CA358059154
502 V>M No ClinGen
ExAC
gnomAD
rs138552308
CA104770175
506 Q>* No ClinGen
ESP
TOPMed
rs138552308
CA358059078
506 Q>E No ClinGen
ESP
TOPMed
rs1270125356
CA358058935
512 M>T No ClinGen
gnomAD
rs1307681591
CA358058873
515 M>I No ClinGen
TOPMed
gnomAD
rs755999200
CA3064924
516 V>F No ClinGen
ExAC
gnomAD
rs749871485
CA3064900
523 W>* No ClinGen
ExAC
gnomAD
CA104769315
rs1041057448
527 K>R No ClinGen
TOPMed
rs1449297442
CA358058397
528 E>D No ClinGen
gnomAD
rs770463866
CA104769308
528 E>V No ClinGen
Ensembl
CA358058395
rs1246981889
529 L>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA104769305
rs201925223
530 W>C No ClinGen
Ensembl
TCGA novel 531 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 532 E>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1205751080
CA358058280
537 Y>S No ClinGen
TOPMed
rs756813075
CA3064898
538 I>S No ClinGen
ExAC
gnomAD
CA358058208
rs1354165197
542 W>R No ClinGen
gnomAD
rs759965786
CA3064895
547 F>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 547 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1197181033
CA358058070
548 G>A No ClinGen
TOPMed
rs1341223949
CA358058057
549 M>L No ClinGen
gnomAD
rs369872151
CA104769278
560 R>* No ClinGen
ESP
TOPMed
rs766761103
CA3064893
560 R>K No ClinGen
ExAC
TOPMed
gnomAD
CA358057850
rs766761103
560 R>T No ClinGen
ExAC
TOPMed
gnomAD
CA3064892
rs763139089
561 F>S No ClinGen
ExAC
gnomAD
rs1452563441
CA358057833
561 F>V No ClinGen
TOPMed
rs773114006
CA3064891
COSM1050612
COSM1594242
568 T>M Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA104769266
rs34507256
569 K>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs138022780
CA3064888
571 Q>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138022780
CA358057573
571 Q>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs768500830
CA3064887
572 Q>R No ClinGen
ExAC
gnomAD
CA3064885
rs780080062
576 S>N No ClinGen
ExAC
gnomAD
rs199633821
CA3064882
578 V>F No ClinGen
ExAC
TOPMed
gnomAD
rs199633821
CA3064883
578 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 579 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1270896965
CA358057314
580 E>D No ClinGen
TOPMed
gnomAD
CA3064881
rs756946767
580 E>G No ClinGen
ExAC
gnomAD
TCGA novel 581 S>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753602268
CA3064880
581 S>N No ClinGen
ExAC
gnomAD
rs868507778
CA104769231
585 E>K No ClinGen
Ensembl
TCGA novel 591 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064878
rs201026202
591 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA358056989
rs200366233
593 Q>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3064877
rs200366233
593 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs766929139
CA3064876
596 T>A No ClinGen
ExAC
gnomAD
rs1274537269
CA358056926
597 Y>F No ClinGen
gnomAD
CA3064858
rs751981744
610 I>T No ClinGen
ExAC
gnomAD
rs750951273
CA3064855
617 I>V No ClinGen
ExAC
gnomAD
rs765770767
CA3064854
623 F>S No ClinGen
ExAC
gnomAD
CA3064853
rs761921081
625 R>W No ClinGen
ExAC
gnomAD
CA358055626
COSM1050610
COSM1594244
rs1257675194
627 A>T Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs200357045
CA3064851
629 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760849828
CA3064850
630 L>F No ClinGen
ExAC
TOPMed
gnomAD
CA104767961
rs202011680
631 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs891551044
CA104767955
632 A>S No ClinGen
Ensembl
TCGA novel 634 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs375144966
CA3064849
636 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA104767944
rs55712749
640 Q>H No ClinGen
TOPMed
CA3064846
rs774191611
644 G>V No ClinGen
ExAC
TOPMed
gnomAD
rs1341374790
CA358055286
645 R>M No ClinGen
TOPMed
gnomAD
TCGA novel 647 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358055232
rs1298348459
648 K>R No ClinGen
TOPMed
gnomAD
TCGA novel 649 D>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1337035284
CA358055166
651 F>S No ClinGen
gnomAD
TCGA novel 656 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs199896927
CA104767921
659 M>T No ClinGen
gnomAD
rs1229153649
CA358054864
666 I>V No ClinGen
Ensembl
rs748829521
CA3064844
670 I>V No ClinGen
ExAC
gnomAD
rs1401204740
CA358054712
673 S>A No ClinGen
gnomAD
rs1465658748
CA358054672
674 Y>* No ClinGen
TOPMed
rs777376339
CA358054658
675 Y>* No ClinGen
ExAC
TOPMed
gnomAD
CA358054633
rs1446275099
678 A>T No ClinGen
gnomAD
CA3064841
rs747700292
678 A>V No ClinGen
ExAC
gnomAD
CA3064840
rs780885360
683 A>V No ClinGen
ExAC
CA358054466
rs1404878170
685 T>I No ClinGen
gnomAD
CA3064826
rs772859650
691 F>L No ClinGen
ExAC
gnomAD
rs762915832
CA3064827
691 F>Y No ClinGen
ExAC
gnomAD
TCGA novel 692 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 693 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1267321724
CA358054123
694 L>I No ClinGen
gnomAD
TCGA novel 701 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064825
rs769488090
705 T>S No ClinGen
ExAC
gnomAD
rs200581023
CA104766175
COSM215926
707 V>I central_nervous_system [Cosmic] No ClinGen
cosmic curated
gnomAD
rs200581023
CA358054033
707 V>L No ClinGen
gnomAD
CA104766146
rs199543039
710 K>N No ClinGen
Ensembl
rs1297339645
CA358054013
710 K>R No ClinGen
gnomAD
TCGA novel 712 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 714 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1288145887
CA358053924
715 F>Y No ClinGen
TOPMed
CA358053864
rs1214599634
718 N>S No ClinGen
gnomAD
rs779213035
CA3064820
720 G>E No ClinGen
ExAC
gnomAD
CA3064819
rs148274998
721 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3064817
COSM1594247
COSM1050604
rs146271874
722 V>I endometrium [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA104766103
rs199605661
723 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
TCGA novel 726 I>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064815
rs752796351
728 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs1560695591
CA358053671
729 V>I No ClinGen
Ensembl
rs371143303
CA3064813
730 T>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3064812
rs751403539
730 T>I No ClinGen
ExAC
gnomAD
TCGA novel 730 T>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762830463
CA3064810
733 V>I No ClinGen
ExAC
gnomAD
rs201237198
CA104766077
734 V>I No ClinGen
Ensembl
TCGA novel 736 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA104766070
rs200144774
738 M>I No ClinGen
1000Genomes
TCGA novel 738 M>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 741 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA358053381
rs1481047740
743 I>L No ClinGen
gnomAD
rs768849197
CA3064775
752 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs747055538
CA3064774
755 D>G No ClinGen
ExAC
gnomAD
rs1461323686
CA358052976
756 V>A No ClinGen
gnomAD
rs1286787693
CA358052982
756 V>I No ClinGen
gnomAD
CA3064772
rs200628918
762 R>C No ClinGen
ExAC
gnomAD
CA3064771
COSM4150441
COSM4150440
rs778706772
763 S>* ovary [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA3064770
rs757158418
768 S>Y No ClinGen
ExAC
gnomAD
TCGA novel 769 Y>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064768
rs763905038
771 D>G No ClinGen
ExAC
gnomAD
rs897321679
CA104765097
772 D>E No ClinGen
Ensembl
CA3064767
rs760224432
772 D>Y No ClinGen
ExAC
gnomAD
rs1273666621
CA358052767
774 K>N No ClinGen
TOPMed
CA104765088
rs1041200934
776 L>F No ClinGen
Ensembl
CA3064766
rs752150959
777 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA3064765
rs767183859
780 F>L No ClinGen
ExAC
gnomAD
COSM76833
CA358052712
rs1386284134
783 V>A ovary large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs1423085434
CA358052705
784 P>L No ClinGen
gnomAD
CA104765046
rs201837224
785 S>N No ClinGen
TOPMed
CA3064763
rs773461977
788 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA104764999
rs377595572
789 F>L No ClinGen
ESP
TOPMed
rs751869472
CA104765004
789 F>Y No ClinGen
Ensembl
CA3064761
rs145430158
793 I>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA104764996
rs145430158
793 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA358052641
rs1372186923
794 M>T No ClinGen
gnomAD
rs777236974
COSM3008477
COSM1050600
CA3064760
795 R>* endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs201449154
CA3064758
795 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs201449154
CA3064759
795 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
COSM1594251
rs201449154
CA3064757
COSM1050599
795 R>Q Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA104764909
rs1031627987
796 I>V No ClinGen
TOPMed
gnomAD
rs200645413
CA104764903
798 N>D No ClinGen
TOPMed
gnomAD
CA358052598
rs1293654067
801 K>R No ClinGen
gnomAD
rs1472888531
CA358052564
806 R>G No ClinGen
gnomAD
CA358052560
rs11732666
806 R>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1268686281
CA358052556
807 L>F No ClinGen
gnomAD
CA358052531
rs1229640179
810 D>G No ClinGen
gnomAD
rs1368081260
CA358052523
811 I>M No ClinGen
gnomAD
CA3064752
rs757145687
811 I>T No ClinGen
ExAC
gnomAD
CA358052527
rs1283127579
811 I>V No ClinGen
gnomAD
CA3064751
rs749012888
812 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA358052522
rs749012888
812 E>Q No ClinGen
ExAC
TOPMed
gnomAD
CA3064750
rs35312610
813 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3064749
rs200465648
816 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA3064747
rs377662018
820 S>F No ClinGen
ESP
ExAC
gnomAD
CA3064746
rs754469967
821 R>G No ClinGen
ExAC
gnomAD
CA3064730
rs777360921
823 N>T No ClinGen
ExAC
gnomAD
CA358051611
rs1242816665
827 Q>* No ClinGen
gnomAD
rs1351724863
CA358051503
836 H>D No ClinGen
TOPMed
CA358051477
rs1223730850
838 F>L No ClinGen
gnomAD
rs754521633
CA3064725
839 N>S No ClinGen
ExAC
gnomAD
rs1281638595
CA358051444
840 S>N No ClinGen
gnomAD
TCGA novel 840 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064724
rs751012220
843 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs766080390
CA3064723
844 Q>R No ClinGen
ExAC
gnomAD
CA104762423
rs1030471090
846 T>I No ClinGen
TOPMed
rs138232580
CA3064722
847 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs764499384
CA3064720
848 Y>* No ClinGen
ExAC
gnomAD
rs576172174
CA3064719
849 Q>K No ClinGen
1000Genomes
ExAC
gnomAD
CA358049668
rs1217994757
851 I>L No ClinGen
gnomAD
CA3064696
rs759890523
856 I>T No ClinGen
ExAC
TCGA novel 858 R>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA104748714
rs953488230
859 Y>C No ClinGen
TOPMed
gnomAD
TCGA novel 859 Y>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3064695
rs751669005
869 N>K No ClinGen
ExAC
TOPMed
gnomAD
rs1553936310
RCV000585627
CA358049208
874 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ClinVar
Ensembl
NCI-TCGA
dbSNP
CA104746533
rs767196076
877 L>F No ClinGen
ExAC
gnomAD
CA358048208
rs1265598395
880 I>V No ClinGen
gnomAD
rs781639411
CA3064679
883 D>G No ClinGen
ExAC
gnomAD
CA358048097
rs1322708540
889 Y>F No ClinGen
gnomAD
rs200301137
CA104746475
894 D>N No ClinGen
Ensembl
RCV000960141
CA3064674
rs142202711
896 S>G No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765477300
CA3064673
897 Q>H No ClinGen
ExAC
gnomAD
CA358047982
rs1344876736
897 Q>R No ClinGen
gnomAD
rs1440271038
CA358047962
899 T>P No ClinGen
gnomAD
rs201127695
CA3064671
900 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3064670
rs200028855
901 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA358047921
rs1578589945
902 L>I No ClinGen
Ensembl
CA358047905
rs1436547401
903 A>V No ClinGen
gnomAD
TCGA novel 905 L>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369424795
CA358047828
909 L>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs369424795
CA3064666
909 L>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs375175884
CA104746380
910 S>G No ClinGen
ESP
TOPMed
CA3064665
rs145948370
912 K>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3064664
rs199588234
915 P>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD

1 associated diseases with Q13507

[MIM: 616410]: Spinocerebellar ataxia 41 (SCA41)

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. {ECO:0000269|PubMed:25477146}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. {ECO:0000269|PubMed:25477146}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q13507

Type Name Position InterPro Accession
repeat Ankyrin repeat 111 - 199 IPR002110-1
repeat Ankyrin repeat 232 - 261 IPR002110-2
domain Ion transport domain 489 - 754 IPR005821
domain Transient receptor ion channel domain 267 - 329 IPR013555

Functions

Description
EC Number
Subcellular Localization
  • Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
cation channel complex An ion channel complex through which cations pass.
integral component of plasma membrane The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name Definition
calcium channel activity Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
inositol 1,4,5 trisphosphate binding Binding to inositol 1,4,5 trisphosphate.
store-operated calcium channel activity A ligand-gated ion channel activity which transports calcium in response to emptying of intracellular calcium stores.

10 GO annotations of biological process

Name Definition
calcium ion transmembrane transport A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
calcium ion transport The directed movement of calcium (Ca) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
manganese ion transport The directed movement of manganese (Mn) ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
phototransduction The sequence of reactions within a cell required to convert absorbed photons into a molecular signal.
positive regulation of calcium ion transport into cytosol Any process that increases the rate of the directed movement of calcium ions into the cytosol of a cell. The cytosol is that part of the cytoplasm that does not contain membranous or particulate subcellular components.
positive regulation of cardiac muscle hypertrophy in response to stress Any process that activates or increases the frequency, rate or extent of cardiac muscle hypertrophy in response to stress.
regulation of cytosolic calcium ion concentration Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings.
response to ATP Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ATP (adenosine 5'-triphosphate) stimulus.
response to calcium ion Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus.
single fertilization The union of male and female gametes to form a zygote.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O18784 TRPC1 Short transient receptor potential channel 1 Bos taurus (Bovine) PR
P79100 TRPC4 Short transient receptor potential channel 4 Bos taurus (Bovine) PR
P19334 trp Transient receptor potential protein Drosophila melanogaster (Fruit fly) PR
P48994 trpl Transient-receptor-potential-like protein Drosophila melanogaster (Fruit fly) PR
Q9HCX4 TRPC7 Short transient receptor potential channel 7 Homo sapiens (Human) PR
Q9Y210 TRPC6 Short transient receptor potential channel 6 Homo sapiens (Human) PR
P48995 TRPC1 Short transient receptor potential channel 1 Homo sapiens (Human) PR
Q9UL62 TRPC5 Short transient receptor potential channel 5 Homo sapiens (Human) PR
Q9UBN4 TRPC4 Short transient receptor potential channel 4 Homo sapiens (Human) PR
Q9WVC5 Trpc7 Short transient receptor potential channel 7 Mus musculus (Mouse) PR
Q9QUQ5 Trpc4 Short transient receptor potential channel 4 Mus musculus (Mouse) PR
Q9QX29 Trpc5 Short transient receptor potential channel 5 Mus musculus (Mouse) PR
Q61143 Trpc6 Short transient receptor potential channel 6 Mus musculus (Mouse) PR
Q9R244 Trpc2 Short transient receptor potential channel 2 Mus musculus (Mouse) PR
Q61056 Trpc1 Short transient receptor potential channel 1 Mus musculus (Mouse) PR
Q9QZC1 Trpc3 Short transient receptor potential channel 3 Mus musculus (Mouse) PR
Q9QX01 Trpc1 Short transient receptor potential channel 1 Rattus norvegicus (Rat) PR
O35119 Trpc4 Short transient receptor potential channel 4 Rattus norvegicus (Rat) PR
Q9R283 Trpc2 Short transient receptor potential channel 2 Rattus norvegicus (Rat) PR
Q9JMI9 Trpc3 Short transient receptor potential channel 3 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MSTKVRKCKE QARVTFPAPE EEEDEGEDEG AEPQRRRRGW RGVNGGLEPR SAPSQREPHG
70 80 90 100 110 120
YCPPPFSHGP DLSMEGSPSL RRMTVMREKG RRQAVRGPAF MFNDRGTSLT AEEERFLDAA
130 140 150 160 170 180
EYGNIPVVRK MLEESKTLNV NCVDYMGQNA LQLAVGNEHL EVTELLLKKE NLARIGDALL
190 200 210 220 230 240
LAISKGYVRI VEAILNHPGF AASKRLTLSP CEQELQDDDF YAYDEDGTRF SPDITPIILA
250 260 270 280 290 300
AHCQKYEVVH MLLMKGARIE RPHDYFCKCG DCMEKQRHDS FSHSRSRINA YKGLASPAYL
310 320 330 340 350 360
SLSSEDPVLT ALELSNELAK LANIEKEFKN DYRKLSMQCK DFVVGVLDLC RDSEEVEAIL
370 380 390 400 410 420
NGDLESAEPL EVHRHKASLS RVKLAIKYEV KKFVAHPNCQ QQLLTIWYEN LSGLREQTIA
430 440 450 460 470 480
IKCLVVLVVA LGLPFLAIGY WIAPCSRLGK ILRSPFMKFV AHAASFIIFL GLLVFNASDR
490 500 510 520 530 540
FEGITTLPNI TVTDYPKQIF RVKTTQFTWT EMLIMVWVLG MMWSECKELW LEGPREYILQ
550 560 570 580 590 600
LWNVLDFGML SIFIAAFTAR FLAFLQATKA QQYVDSYVQE SDLSEVTLPP EIQYFTYARD
610 620 630 640 650 660
KWLPSDPQII SEGLYAIAVV LSFSRIAYIL PANESFGPLQ ISLGRTVKDI FKFMVLFIMV
670 680 690 700 710 720
FFAFMIGMFI LYSYYLGAKV NAAFTTVEES FKTLFWSIFG LSEVTSVVLK YDHKFIENIG
730 740 750 760 770 780
YVLYGIYNVT MVVVLLNMLI AMINSSYQEI EDDSDVEWKF ARSKLWLSYF DDGKTLPPPF
790 800 810 820 830 840
SLVPSPKSFV YFIMRIVNFP KCRRRRLQKD IEMGMGNSKS RLNLFTQSNS RVFESHSFNS
850 860 870 880 890 900
ILNQPTRYQQ IMKRLIKRYV LKAQVDKEND EVNEGELKEI KQDISSLRYE LLEDKSQATE
910 920
ELAILIHKLS EKLNPSMLRC E