Descriptions

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

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9GZN6

Entry ID Method Resolution Chain Position Source
AF-Q9GZN6-F1 Predicted AlphaFoldDB

569 variants for Q9GZN6

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1207628908
CA406808331
3 T>S No ClinGen
TOPMed
rs902914947
CA309446940
4 E>G No ClinGen
Ensembl
CA9570614
rs756089172
5 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA9570612
rs756089172
5 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA309446917
rs967454228
7 P>A No ClinGen
TOPMed
gnomAD
CA9570610
rs781409087
8 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406808232
rs1156994599
10 S>Y No ClinGen
gnomAD
rs773747860
CA406808226
CA9570608
11 L>F No ClinGen
ExAC
TOPMed
gnomAD
rs755431681
CA9570607
13 A>V No ClinGen
ExAC
gnomAD
CA406808204
rs1266143827
15 T>I No ClinGen
TOPMed
gnomAD
rs1283255973
CA406808192
17 W>* No ClinGen
gnomAD
CA406808195
rs1165212271
17 W>R No ClinGen
TOPMed
rs1020330246
CA309446870
18 T>S No ClinGen
TOPMed
gnomAD
rs201901598
CA9570604
22 I>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9570603
rs367858625
23 S>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406808128
rs1383229275
27 P>S No ClinGen
TOPMed
TCGA novel 30 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9570601
rs770190144
31 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs762291506
CA9570600
32 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs777184793
CA9570599
35 K>E No ClinGen
ExAC
gnomAD
CA9570598
rs769151331
36 G>D No ClinGen
ExAC
gnomAD
rs1361684114
CA406808045
39 T>N No ClinGen
gnomAD
rs371186183
CA9570593
40 R>Q No ClinGen
ESP
ExAC
gnomAD
CA9570594
rs780024024
40 R>W No ClinGen
ExAC
gnomAD
CA309446828
rs954706679
41 S>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs746119231
CA9570592
42 A>P No ClinGen
ExAC
TOPMed
gnomAD
rs368405211
CA9570591
44 S>Y No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570590
rs756032696
45 W>* No ClinGen
ExAC
TOPMed
gnomAD
CA9570589
rs374191258
46 T>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309446824
rs574049645
47 S>T No ClinGen
Ensembl
TCGA novel 48 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs754894079
CA9570587
48 E>D No ClinGen
ExAC
gnomAD
TCGA novel 54 A>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406807953
rs762642541
55 R>L No ClinGen
ExAC
gnomAD
CA406807954
rs762642541
55 R>P No ClinGen
ExAC
gnomAD
CA9570584
rs762642541
55 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA9570585
rs750477215
COSM271054
55 R>W lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750098166
CA9570583
56 V>D No ClinGen
ExAC
gnomAD
rs1205589953
CA406807942
57 A>V No ClinGen
TOPMed
rs1255459789
CA406807940
58 E>K No ClinGen
TOPMed
rs765579507
CA9570582
59 A>T No ClinGen
ExAC
gnomAD
rs762095165
CA9570581
61 A>V No ClinGen
ExAC
gnomAD
CA406807907
rs1421833147
63 T>A No ClinGen
TOPMed
rs1320434672
CA406807903
63 T>I No ClinGen
gnomAD
rs776988530
CA9570580
64 S>G No ClinGen
ExAC
gnomAD
rs370814054
CA9570579
65 Q>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309446797
rs899792634
65 Q>H No ClinGen
TOPMed
CA9570578
rs761120851
67 K>M No ClinGen
ExAC
TOPMed
gnomAD
rs374807452
CA9570576
74 A>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406807826
rs1477829944
75 L>S No ClinGen
gnomAD
CA9570573
rs779345234
77 A>T No ClinGen
ExAC
gnomAD
rs747903139
CA9570571
78 S>L No ClinGen
ExAC
gnomAD
rs1568535905
CA406807801
78 S>P No ClinGen
Ensembl
CA406807786
rs1405581596
79 A>D No ClinGen
gnomAD
CA406807777
rs1256841919
80 L>P No ClinGen
gnomAD
rs1400779169
CA406807771
81 N>D No ClinGen
TOPMed
rs375834057
CA9570570
85 T>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570569
rs375834057
85 T>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406807679
rs1218233200
86 H>R No ClinGen
TOPMed
gnomAD
rs895463991
CA309446746
89 V>M No ClinGen
TOPMed
gnomAD
CA9570566
rs757910098
90 Q>K No ClinGen
ExAC
gnomAD
rs1335485989
CA406807607
91 M>V No ClinGen
gnomAD
rs201259913
CA9570565
93 E>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406807507
rs1239227099
96 E>G No ClinGen
TOPMed
rs148710394
CA9570563
96 E>K No ClinGen
1000Genomes
ExAC
gnomAD
rs144293339
CA9570562
99 V>I No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406807387
rs1419679678
101 L>F No ClinGen
TOPMed
gnomAD
CA406807367
rs1421264581
102 A>D No ClinGen
TOPMed
gnomAD
CA406807361
rs1421264581
102 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA9570561
rs373862770
103 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200422926
CA9570560
103 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs200422926
CA309446706
103 R>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201814152
CA9570559
COSM439961
104 P>L breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA406807283
rs1456430875
106 W>L No ClinGen
gnomAD
CA9570557
rs759467879
107 S>P No ClinGen
ExAC
gnomAD
rs774587475
CA9570556
108 S>G No ClinGen
ExAC
gnomAD
CA9570555
rs35860981
VAR_052067
108 S>R No ClinGen
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs749560614
CA9570554
112 Y>C No ClinGen
ExAC
gnomAD
rs1568535687
CA406806214
112 Y>H No ClinGen
Ensembl
rs1355735516
CA406806134
115 A>P No ClinGen
gnomAD
rs1285244256
CA406806117
116 Q>* No ClinGen
gnomAD
TCGA novel 117 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776543833
CA9570553
117 V>L No ClinGen
ExAC
gnomAD
rs776543833
CA309446679
117 V>M No ClinGen
ExAC
gnomAD
TCGA novel 118 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs746958635
CA9570551
127 W>R No ClinGen
ExAC
TOPMed
gnomAD
rs373979315
COSM3670229
CA9570550
128 R>C central_nervous_system [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA9570549
rs758366362
COSM216466
128 R>H Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9570548
rs369603407
130 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs778429946
CA9570547
134 L>F No ClinGen
ExAC
gnomAD
CA9570546
rs756876679
135 N>S No ClinGen
ExAC
gnomAD
CA406805583
rs1391445473
136 S>G No ClinGen
TOPMed
CA406805567
rs1224979258
136 S>I No ClinGen
TOPMed
gnomAD
CA406805569
rs1224979258
136 S>N No ClinGen
TOPMed
gnomAD
rs753541500
CA9570545
137 G>A No ClinGen
ExAC
gnomAD
CA406805501
rs1309967115
139 C>G No ClinGen
TOPMed
CA406805380
rs1413258676
139 C>S No ClinGen
gnomAD
CA9570524
rs192727407
141 F>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA406805339
rs1219057559
141 F>V No ClinGen
gnomAD
CA406805312
rs189659673
142 A>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs189659673
CA9570523
142 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406805296
rs1397517095
143 A>T No ClinGen
gnomAD
CA9570522
rs752955523
144 I>V No ClinGen
ExAC
gnomAD
rs1298341713
CA406805222
145 Y>C No ClinGen
gnomAD
rs371853719
CA9570521
146 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309446295
rs1055574260
148 M>I No ClinGen
Ensembl
rs755518333
CA9570520
COSM1740507
CA406805152
148 M>L haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
rs755518333
CA406805156
148 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs1175067906
CA406805096
150 F>S No ClinGen
gnomAD
CA9570519
rs752168236
151 L>P No ClinGen
ExAC
gnomAD
rs1414851126
CA406805087
151 L>V No ClinGen
gnomAD
rs368553361
CA9570517
152 V>F No ClinGen
ESP
ExAC
gnomAD
CA406805045
rs1187223050
153 G>E No ClinGen
gnomAD
CA9570515
rs765324085
153 G>R No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 155 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs762123205
CA9570514
155 P>S No ClinGen
ExAC
gnomAD
rs1037377189
COSM1681207
CA309446264
156 L>F large_intestine [Cosmic] No ClinGen
cosmic curated
gnomAD
CA406804986
rs1250687852
157 L>V No ClinGen
TOPMed
rs1462048159
CA406804895
161 M>V No ClinGen
gnomAD
CA309446251
rs760947365
162 A>T No ClinGen
Ensembl
CA9570512
rs771907111
163 A>G No ClinGen
ExAC
gnomAD
CA406804822
rs1159846347
165 Q>H No ClinGen
TOPMed
CA9570510
rs774341539
166 S>G No ClinGen
ExAC
gnomAD
rs770862288
CA9570509
167 M>V No ClinGen
ExAC
CA9570508
rs370627761
168 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs769340137
CA309446241
168 R>H No ClinGen
TOPMed
gnomAD
rs769340137
CA309446240
168 R>P No ClinGen
TOPMed
gnomAD
CA309446234
rs940918017
172 M>I No ClinGen
Ensembl
rs769299339
CA9570506
172 M>L No ClinGen
ExAC
gnomAD
rs1376829497
CA406804737
172 M>R No ClinGen
gnomAD
CA406804735
rs1376829497
172 M>T No ClinGen
gnomAD
CA9570507
rs769299339
172 M>V No ClinGen
ExAC
gnomAD
rs1302227818
CA406804719
173 G>C No ClinGen
gnomAD
CA406804714
rs1376991276
173 G>V No ClinGen
TOPMed
rs1415232412
CA406804697
174 V>G No ClinGen
TOPMed
CA9570504
rs781396477
175 W>* No ClinGen
ExAC
gnomAD
CA406804654
rs755459858
179 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA309446211
rs1001300176
179 A>S No ClinGen
TOPMed
rs755459858
CA9570503
179 A>V No ClinGen
ExAC
TOPMed
gnomAD
CA406804647
rs1171165859
180 P>L No ClinGen
gnomAD
rs1277362371
CA406804640
181 W>* No ClinGen
TOPMed
gnomAD
TCGA novel 181 W>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9570500
rs535969105
182 I>M No ClinGen
1000Genomes
ExAC
gnomAD
rs201536195
CA9570499
183 G>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs765402371
CA9570498
186 G>E No ClinGen
ExAC
gnomAD
CA406804613
CA406804614
rs1245352709
186 G>R No ClinGen
gnomAD
rs761923828
CA406804609
187 Y>D No ClinGen
ExAC
gnomAD
CA9570497
rs761923828
187 Y>N No ClinGen
ExAC
gnomAD
CA406804597
rs1251557334
188 S>F No ClinGen
gnomAD
rs1251557334
CA406804599
188 S>Y No ClinGen
gnomAD
CA9570496
rs754149802
190 F>L No ClinGen
ExAC
gnomAD
CA406804578
rs1319413341
191 M>K No ClinGen
gnomAD
CA406804577
rs1319413341
191 M>T No ClinGen
gnomAD
rs1364729580
CA406804558
192 V>L No ClinGen
gnomAD
COSM567085
CA406804525
rs377673703
197 G>C lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs377673703
CA9570477
197 G>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9570475
rs370401247
199 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406804507
rs1355269398
200 F>L No ClinGen
TOPMed
CA9570474
rs200575419
201 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570473
rs756351970
202 V>M No ClinGen
ExAC
gnomAD
CA9570472
rs751316257
204 N>I No ClinGen
ExAC
gnomAD
CA406804479
rs751316257
204 N>T No ClinGen
ExAC
gnomAD
CA406804469
rs1274459129
206 W>R No ClinGen
TOPMed
rs1262242476
CA406804450
208 I>N No ClinGen
gnomAD
rs573107444
CA9570470
209 F>I No ClinGen
ExAC
gnomAD
rs573107444
CA9570469
209 F>L No ClinGen
ExAC
gnomAD
CA406804443
rs1282921086
209 F>L No ClinGen
gnomAD
rs573107444
CA309445926
209 F>V No ClinGen
ExAC
gnomAD
rs765089246
CA9570467
210 Y>* No ClinGen
ExAC
gnomAD
rs1600637843
CA406804437
COSM1226521
210 Y>C large_intestine [Cosmic] No ClinGen
cosmic curated
Ensembl
rs1034204007
CA309445923
211 M>L No ClinGen
TOPMed
CA406804434
rs1034204007
211 M>V No ClinGen
TOPMed
rs1448513772
CA406804419
212 S>R No ClinGen
TOPMed
CA9570465
rs761326544
213 Q>K No ClinGen
ExAC
gnomAD
CA309445893
rs1037746637
215 F>L No ClinGen
Ensembl
rs1193681044
CA406804389
216 Q>R No ClinGen
TOPMed
rs369563759
CA9570462
217 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406804358
rs746695742
218 P>H No ClinGen
ExAC
TOPMed
gnomAD
rs746695742
CA9570461
218 P>L No ClinGen
ExAC
TOPMed
gnomAD
rs199518492
CA9570459
219 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs746359821
CA9570458
220 P>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs757719908
CA406804318
221 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs757719908
CA9570456
221 W>C No ClinGen
ExAC
TOPMed
gnomAD
CA406804330
rs1192350942
CA406804332
221 W>R No ClinGen
gnomAD
rs1262687823
CA406804242
224 C>* No ClinGen
gnomAD
CA9570454
rs756298917
224 C>F No ClinGen
ExAC
TOPMed
gnomAD
CA9570453
rs756298917
224 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs752974704
CA9570452
225 P>L No ClinGen
ExAC
gnomAD
rs766158533
CA9570451
227 T>M No ClinGen
ExAC
TOPMed
gnomAD
rs758143718
CA9570449
229 N>K No ClinGen
ExAC
gnomAD
rs1353985637
CA406804120
229 N>T No ClinGen
TOPMed
CA406804092
rs1327487994
231 S>R No ClinGen
gnomAD
rs75222424
CA9570447
233 F>V No ClinGen
1000Genomes
ExAC
gnomAD
VAR_064753 236 E>K found in a renal cell carcinoma sample; somatic mutation [UniProt] No UniProt
rs752272167
CA9570425
237 C>Y No ClinGen
ExAC
TOPMed
gnomAD
CA9570422
rs774747855
239 R>Q No ClinGen
ExAC
gnomAD
CA9570423
rs141735197
239 R>W No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA309445643
rs979946445
241 T>A No ClinGen
TOPMed
gnomAD
rs540489796
CA9570421
242 P>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1568534287
CA406803741
242 P>T No ClinGen
Ensembl
CA406803713
rs1296109014
243 S>F No ClinGen
TOPMed
rs201181984
CA9570419
245 Y>C No ClinGen
ExAC
CA9570418
rs201181984
245 Y>S No ClinGen
ExAC
CA406803635
rs1397993520
246 F>L No ClinGen
TOPMed
rs753875190
CA9570417
248 Y>* No ClinGen
ExAC
TOPMed
gnomAD
rs781158695
CA9570416
249 Q>H No ClinGen
ExAC
gnomAD
CA406803550
rs1600637017
250 Q>P No ClinGen
Ensembl
CA9570414
rs747241187
251 A>D No ClinGen
ExAC
gnomAD
rs768887886
CA9570415
251 A>P No ClinGen
ExAC
gnomAD
CA406803501
rs1466382174
253 K>N No ClinGen
gnomAD
TCGA novel 253 K>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406803488
rs1368765660
255 S>L Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA309445600
rs773222172
257 R>G No ClinGen
Ensembl
rs1158999143
CA406803453
259 E>K No ClinGen
TOPMed
gnomAD
CA9570411
rs200853563
262 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406803374
rs1600636892
263 S>A No ClinGen
Ensembl
rs1197279239
CA406803339
265 V>I No ClinGen
gnomAD
rs1270164585
CA406803323
266 Y>C No ClinGen
TOPMed
gnomAD
CA406803267
rs1600636836
269 V>G No ClinGen
Ensembl
CA406803240
rs1251657530
271 P>L No ClinGen
TOPMed
rs375394992
CA9570406
272 F>S No ClinGen
ESP
ExAC
gnomAD
CA9570405
rs200935779
274 L>F No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372373962
CA9570404
275 C>F No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs1600636780
CA406803115
277 C>G Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
Ensembl
rs77689038
CA9570403
278 L>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs763245138
CA9570402
279 V>F No ClinGen
ExAC
TOPMed
gnomAD
CA406803069
rs1600636750
279 V>G No ClinGen
Ensembl
CA406803082
rs763245138
279 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs374177563
CA9570400
283 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570401
rs773587871
CA406802998
283 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs372514145
CA9570399
284 I>M No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570398
rs367909942
285 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406802919
rs1391693099
287 L>P No ClinGen
TOPMed
rs768673694
CA9570397
288 K>T No ClinGen
ExAC
gnomAD
rs1177412016
CA406802804
292 K>N No ClinGen
gnomAD
CA406802673
rs1419369998
295 Y>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs746133272
CA9570376
296 V>F No ClinGen
ExAC
gnomAD
CA309445368
rs866859080
301 P>L No ClinGen
Ensembl
rs938586621
CA309445360
305 I>T No ClinGen
TOPMed
gnomAD
CA406802526
rs371386937
307 G>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs746461971
CA9570369
307 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA9570371
rs371386937
307 G>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570370
rs371386937
307 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1600636151
CA406802508
308 F>Y No ClinGen
Ensembl
rs536601412
CA9570368
311 R>G No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9570366
rs750131243
311 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA9570367
rs536601412
311 R>W No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs201378910
CA9570364
313 L>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406802430
rs1486419614
314 L>F No ClinGen
TOPMed
CA9570363
rs757500646
316 E>Q No ClinGen
ExAC
gnomAD
rs1231750595
CA406802387
317 G>E No ClinGen
TOPMed
CA309445305
rs754245709
318 A>E No ClinGen
ExAC
TOPMed
gnomAD
rs866968796
CA309445313
318 A>T No ClinGen
Ensembl
CA9570362
rs754245709
COSM76493
318 A>V ovary [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA9570361
rs551058122
319 K>E No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1383939189
CA406802322
321 G>C No ClinGen
gnomAD
rs761279569
CA9570360
323 Q>E No ClinGen
ExAC
gnomAD
CA9570359
rs775681624
323 Q>P No ClinGen
ExAC
TOPMed
gnomAD
CA9570358
rs767754592
324 Q>* No ClinGen
ExAC
TOPMed
gnomAD
rs766320489
CA309445263
324 Q>L No ClinGen
TOPMed
CA406802233
rs1175094227
325 L>V No ClinGen
gnomAD
rs1435501665
CA406802216
326 V>E No ClinGen
TOPMed
CA406802149
rs1230249753
330 I>M No ClinGen
gnomAD
rs751710599
CA406802141
331 S>* No ClinGen
ExAC
TOPMed
gnomAD
rs751710599
CA9570337
331 S>L No ClinGen
ExAC
TOPMed
gnomAD
rs1395392217
CA406802145
331 S>P No ClinGen
Ensembl
CA406802056
rs1453496896
336 M>I No ClinGen
gnomAD
CA9570333
rs143434861
336 M>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143434861
CA9570334
336 M>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA309445030
rs905184108
337 S>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
CA406801969
rs1382180960
342 A>V No ClinGen
TOPMed
rs1316632869
CA406801961
343 G>E No ClinGen
TOPMed
rs761417160
CA309445008
344 G>S No ClinGen
TOPMed
gnomAD
CA9570331
rs768550440
344 G>V No ClinGen
ExAC
TOPMed
gnomAD
CA309444988
rs975700340
346 V>A No ClinGen
Ensembl
CA406801926
rs1299282427
346 V>I No ClinGen
TOPMed
gnomAD
rs1427986785
CA406801863
350 T>I No ClinGen
gnomAD
rs1199589386
CA406801848
352 I>L No ClinGen
TOPMed
gnomAD
CA9570330
rs760598577
352 I>T No ClinGen
ExAC
gnomAD
rs1259579341
CA406801835
353 G>S No ClinGen
gnomAD
CA9570329
rs775336685
355 G>C No ClinGen
ExAC
gnomAD
rs1486084430
CA406801793
356 S>C No ClinGen
gnomAD
CA9570328
rs369751841
357 V>I No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309444959
rs199795374
358 A>P No ClinGen
1000Genomes
TOPMed
CA309444961
rs199795374
358 A>T No ClinGen
1000Genomes
TOPMed
COSM3835365
CA406801769
rs1321754962
358 A>V breast [Cosmic] No ClinGen
cosmic curated
gnomAD
rs267605583
CA309444955
359 S>F No ClinGen
Ensembl
rs1346333108
CA406801751
360 L>S No ClinGen
gnomAD
CA406801720
rs1282708890
362 S>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406801716
rs1224216528
363 Y>H No ClinGen
gnomAD
rs947265293
CA406801701
364 M>L No ClinGen
TOPMed
gnomAD
CA309444947
rs544732904
364 M>T No ClinGen
1000Genomes
TOPMed
gnomAD
rs947265293
CA309444951
364 M>V No ClinGen
TOPMed
gnomAD
CA406801680
rs1194640276
365 P>S No ClinGen
TOPMed
TCGA novel 365 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 366 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406801650
rs1303564110
367 S>Y No ClinGen
TOPMed
gnomAD
rs1386096995
CA406801633
368 N>K No ClinGen
gnomAD
rs745336274
CA9570327
368 N>S No ClinGen
ExAC
gnomAD
rs1323052870
CA406801627
369 N>D No ClinGen
gnomAD
rs770462441
CA9570325
371 L>P No ClinGen
ExAC
gnomAD
rs749020068
CA9570324
373 D>G No ClinGen
ExAC
gnomAD
CA406801564
rs1358562192
373 D>Y No ClinGen
gnomAD
CA309444911
rs775963719
374 A>G No ClinGen
TOPMed
gnomAD
rs777986453
CA9570323
374 A>T No ClinGen
ExAC
gnomAD
rs775963719
CA309444914
374 A>V No ClinGen
TOPMed
gnomAD
CA309444904
rs570510329
CA9570321
377 V>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs570510329
CA9570320
377 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1460102575
CA406800186
384 T>S No ClinGen
gnomAD
rs766528845
CA9570317
385 L>* No ClinGen
ExAC
TOPMed
gnomAD
CA309444882
rs923084602
388 F>C No ClinGen
TOPMed
gnomAD
CA406800026
rs1412559491
394 C>R No ClinGen
TOPMed
rs1314193101
CA406799974
396 L>M No ClinGen
TOPMed
CA9570315
rs750721228
396 L>P No ClinGen
ExAC
gnomAD
rs765379330
CA9570314
397 G>S No ClinGen
ExAC
gnomAD
CA9570313
rs760402213
399 W>R No ClinGen
ExAC
gnomAD
CA9570312
rs775289520
400 A>T No ClinGen
ExAC
gnomAD
rs534129369
CA9570311
400 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406799880
rs1393653107
401 T>I No ClinGen
gnomAD
rs770532413
CA9570307
402 V>A No ClinGen
ExAC
gnomAD
rs952299791
CA309444866
402 V>I No ClinGen
TOPMed
gnomAD
CA9570305
rs772855872
404 T>A No ClinGen
ExAC
gnomAD
CA9570303
rs748482068
405 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs138717616
CA9570302
406 R>C No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs755520021
CA9570301
406 R>H No ClinGen
ExAC
gnomAD
rs1194581933
CA406797175
411 N>K No ClinGen
TOPMed
rs1174281198
CA406797157
412 A>D No ClinGen
gnomAD
CA406797137
rs1469379625
413 E>A No ClinGen
gnomAD
rs1245091351
CA406797012
420 N>H No ClinGen
TOPMed
gnomAD
rs527770003
CA9570267
421 L>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA309434007
rs527770003
421 L>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1474734452
CA406796988
422 G>R No ClinGen
gnomAD
rs1474734452
CA406796984
422 G>W No ClinGen
gnomAD
CA9570264
rs199810151
424 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1312240408
CA406796826
430 P>T No ClinGen
gnomAD
CA9570260
rs374727140
433 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406796687
rs1297983582
436 Y>C No ClinGen
gnomAD
rs1443028816
CA406796695
436 Y>H No ClinGen
TOPMed
CA309433961
rs915819393
437 N>Y No ClinGen
TOPMed
gnomAD
CA406796593
rs1364231124
439 T>I No ClinGen
TOPMed
rs1452248110
CA406796515
443 N>D No ClinGen
gnomAD
TCGA novel 443 N>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406796466
rs1226417209
445 W>C No ClinGen
TOPMed
rs1359780326
CA406796459
446 L>F No ClinGen
gnomAD
CA406796397
rs1419434771
449 L>F No ClinGen
gnomAD
CA9570257
rs370382712
450 P>R No ClinGen
ESP
ExAC
gnomAD
rs990025485
CA309433945
451 Q>* No ClinGen
TOPMed
rs777916062
CA9570256
451 Q>R No ClinGen
ExAC
TOPMed
gnomAD
CA406796332
rs756352301
452 H>D No ClinGen
ExAC
gnomAD
CA9570255
rs756352301
452 H>Y No ClinGen
ExAC
gnomAD
rs750394273
CA9570252
456 M>L No ClinGen
ExAC
TOPMed
gnomAD
CA9570250
rs765266092
456 M>T No ClinGen
ExAC
gnomAD
CA9570251
rs750394273
456 M>V No ClinGen
ExAC
TOPMed
gnomAD
CA9570248
rs753418415
457 V>I No ClinGen
ExAC
TOPMed
gnomAD
CA9570249
rs753418415
457 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs111914101
CA9570246
459 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs111914101
CA9570245
459 R>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs138253216
CA9570244
459 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774774111
CA9570242
460 E>K No ClinGen
ExAC
gnomAD
CA9570240
rs749318396
462 T>A No ClinGen
ExAC
gnomAD
CA9570241
rs749318396
462 T>P No ClinGen
ExAC
gnomAD
rs200193661
CA309433862
463 E>K No ClinGen
Ensembl
CA9570239
rs530003022
464 C>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1600608199
CA406796031
465 N>K No ClinGen
Ensembl
TCGA novel 465 N>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1184393372
CA406796009
466 I>T No ClinGen
TOPMed
rs1568524884
CA406795983
467 E>D No ClinGen
Ensembl
CA309433856
rs946805340
467 E>Q No ClinGen
Ensembl
CA9570237
rs748375433
469 Q>L No ClinGen
ExAC
gnomAD
CA406795873
rs1421291022
472 K>E No ClinGen
TOPMed
CA406795687
rs1458763666
474 S>N No ClinGen
gnomAD
CA406795662
rs1156461996
475 E>G No ClinGen
gnomAD
rs748259959
CA9570219
475 E>K No ClinGen
ExAC
gnomAD
rs776659276
CA9570218
476 G>V No ClinGen
ExAC
gnomAD
rs570271065
CA9570217
477 P>R No ClinGen
ExAC
gnomAD
CA309433639
rs894418487
478 K>E No ClinGen
TOPMed
CA309433635
rs1054759315
480 A>S No ClinGen
TOPMed
rs1268136409
CA406795508
481 F>I No ClinGen
gnomAD
rs745617475
CA9570216
482 L>P No ClinGen
ExAC
TOPMed
gnomAD
CA406795402
rs1206525607
484 F>L No ClinGen
TOPMed
rs757241071
CA9570214
484 F>S No ClinGen
ExAC
TOPMed
gnomAD
rs1268789887
CA406795239
490 F>I No ClinGen
TOPMed
gnomAD
rs1268789887
CA406795243
490 F>L No ClinGen
TOPMed
gnomAD
COSM1681206
rs777333300
CA9570212
492 P>L large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA406795173
rs1191454481
492 P>S No ClinGen
TOPMed
rs752269225
CA9570210
493 P>L No ClinGen
ExAC
TOPMed
gnomAD
CA9570208
rs754658869
494 S>P No ClinGen
ExAC
gnomAD
TCGA novel 495 V>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA309433583
rs766830385
498 S>P No ClinGen
Ensembl
rs372388749
CA9570207
504 M>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570205
rs368968956
505 L>F No ClinGen
ESP
ExAC
gnomAD
rs556545410
COSM4154296
CA9570204
507 A>V kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
gnomAD
CA9570203
rs765783129
508 M>L No ClinGen
ExAC
gnomAD
rs761750177
CA9570202
508 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs765783129
CA406794805
508 M>V No ClinGen
ExAC
gnomAD
rs1434905399
CA406794748
511 S>R No ClinGen
TOPMed
gnomAD
rs768727186
CA9570200
513 A>P No ClinGen
ExAC
gnomAD
CA9570199
rs747286340
515 G>A No ClinGen
ExAC
TOPMed
gnomAD
rs1248913989
CA406794690
516 I>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA9570198
rs774276779
518 Q>L No ClinGen
ExAC
TOPMed
gnomAD
rs1321475223
CA406794646
519 G>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA406794636
rs1255523682
520 I>T No ClinGen
gnomAD
CA9570196
rs375827505
521 I>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9570195
rs777517837
523 P>A No ClinGen
ExAC
TOPMed
gnomAD
CA406794613
rs1349412240
524 L>H No ClinGen
gnomAD
rs1273115283
CA406794606
525 Q>R No ClinGen
TOPMed
rs747574263
CA9570193
528 F>S No ClinGen
ExAC
gnomAD
TCGA novel 529 S>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs780797382
CA9570192
529 S>P No ClinGen
ExAC
TOPMed
gnomAD
rs1600606681
CA406794532
535 T>I No ClinGen
Ensembl
rs915726685
CA309433506
536 K>N No ClinGen
gnomAD
CA9570173
rs376848313
540 V>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1471899394
CA406794484
542 V>I No ClinGen
gnomAD
CA406794477
rs1368118228
543 F>I No ClinGen
gnomAD
TCGA novel 544 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1225245558
CA406794459
545 L>R No ClinGen
TOPMed
CA406794454
rs542424956
546 M>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9570169
rs542424956
546 M>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs367833075
CA9570166
548 V>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs574908444
CA9570167
548 V>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9570163
rs374589467
COSM191768
550 G>S large_intestine [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs867624602
CA309433116
551 L>F No ClinGen
gnomAD
rs1410344955
CA406794345
553 F>S No ClinGen
gnomAD
CA406794329
rs1372344064
554 T>I No ClinGen
gnomAD
CA9570160
rs544619102
555 R>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1167644084
CA406794322
555 R>Q No ClinGen
TOPMed
CA406794312
rs1391250882
556 P>H No ClinGen
gnomAD
rs767811739
CA9570159
557 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA406794254
rs1473936066
560 Y>* No ClinGen
gnomAD
rs201025364
CA9570158
561 F>S No ClinGen
1000Genomes
ExAC
gnomAD
rs1164190707
CA406794232
562 I>V No ClinGen
TOPMed
rs1392001983
CA406794219
563 R>* No ClinGen
TOPMed
rs1254638053
CA406794142
568 Y>C No ClinGen
gnomAD
CA406794148
rs1442913085
568 Y>H No ClinGen
TOPMed
rs769695181
CA9570155
569 W>* No ClinGen
ExAC
gnomAD
rs888457288
CA309433064
569 W>C No ClinGen
Ensembl
CA406794114
rs1451369048
570 I>V No ClinGen
gnomAD
CA9570154
rs761515092
572 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA406794063
rs1600605379
574 I>L No ClinGen
Ensembl
TCGA novel 574 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA406794047
rs1348171535
575 I>N No ClinGen
gnomAD
CA309433041
rs751047062
576 V>I No ClinGen
gnomAD
rs1233185804
CA406794015
577 V>A No ClinGen
TOPMed
rs200823180
CA309433038
577 V>I No ClinGen
TOPMed
CA9570148
rs374195315
579 V>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406793994
rs374195315
579 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1407241153
CA406793961
581 E>D No ClinGen
gnomAD
CA309433036
rs990946302
581 E>K No ClinGen
TOPMed
rs1386738788
CA406793949
582 T>I No ClinGen
TOPMed
gnomAD
rs1415492287
CA406793931
583 M>T No ClinGen
TOPMed
rs757577267
CA9570146
583 M>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 585 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1600605197
CA406793899
585 V>G No ClinGen
Ensembl
rs1282181579
CA406793905
585 V>I No ClinGen
gnomAD
CA309433026
rs999959343
586 S>F No ClinGen
TOPMed
rs749629700
CA9570145
586 S>P No ClinGen
ExAC
TOPMed
gnomAD
CA9570143
rs756723617
587 W>* No ClinGen
ExAC
TOPMed
gnomAD
rs375841828
CA9570142
589 Y>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309433021
rs966712435
593 R>K No ClinGen
TOPMed
gnomAD
CA406792937
rs1455610909
596 A>T No ClinGen
Ensembl
rs1364361852
CA406792927
596 A>V No ClinGen
gnomAD
rs1600601684
CA406792918
597 D>A No ClinGen
Ensembl
CA406792915
rs1447432438
597 D>E No ClinGen
gnomAD
rs781764989
CA9570124
597 D>Y No ClinGen
ExAC
gnomAD
rs189786711
CA9570123
599 T>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA9570122
rs189786711
599 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406792837
rs1450875177
603 G>A No ClinGen
gnomAD
CA9570118
rs373991329
603 G>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309431715
rs373991329
603 G>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406792813
rs1180725989
605 P>S No ClinGen
gnomAD
CA406792783
rs1472830185
607 S>C No ClinGen
gnomAD
CA406792764
rs1459665186
609 I>T No ClinGen
TOPMed
CA406792766
rs1238739929
609 I>V No ClinGen
gnomAD
rs1360039802
CA406792692
615 P>A No ClinGen
TOPMed
rs1300665239
CA406792627
619 P>L No ClinGen
TOPMed
CA406792620
rs1207042190
620 V>F No ClinGen
TOPMed
gnomAD
CA406792611
rs1309444331
621 V>M No ClinGen
gnomAD
CA406792593
rs1311059163
622 L>R No ClinGen
TOPMed
rs767371246
CA9570115
626 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA406792508
rs1295263755
629 M>T No ClinGen
gnomAD
CA406792482
rs1475060441
630 M>I No ClinGen
gnomAD
CA9570112
rs770589710
630 M>L No ClinGen
ExAC
TOPMed
gnomAD
rs1308978950
CA406792453
632 H>Q No ClinGen
gnomAD
CA9570111
rs759753159
632 H>R No ClinGen
ExAC
TOPMed
gnomAD
CA406792426
rs1213827750
634 C>F No ClinGen
TOPMed
CA9570110
rs773700715
635 M>R No ClinGen
ExAC
gnomAD
rs1432046298
CA406792417
635 M>V No ClinGen
gnomAD
rs770352865
CA9570109
637 P>L No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 637 P>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9570107
rs781744685
639 T>I No ClinGen
ExAC
CA9570105
rs372217840
640 Y>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758633120
CA9570103
641 M>I No ClinGen
ExAC
gnomAD
rs751975437
CA9570104
641 M>V No ClinGen
ExAC
TOPMed
gnomAD
rs202093946
CA9570101
644 D>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570102
rs750708682
644 D>N No ClinGen
ExAC
TOPMed
gnomAD
CA9570100
rs755847280
645 S>* No ClinGen
ExAC
gnomAD
rs887214708
CA309431597
645 S>A No ClinGen
TOPMed
gnomAD
CA9570066
rs772590879
649 K>E No ClinGen
ExAC
gnomAD
rs745908357
CA9570065
649 K>N No ClinGen
ExAC
gnomAD
CA9570063
rs774455736
653 R>* No ClinGen
ExAC
TOPMed
gnomAD
rs368464579
CA9570062
COSM3362949
653 R>Q kidney [Cosmic] No ClinGen
cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9570061
rs373948776
654 P>L No ClinGen
ESP
ExAC
TOPMed
CA406791593
rs1600600579
655 Y>S No ClinGen
Ensembl
rs370870774
CA9570060
656 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs370870774
CA9570059
656 P>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1029829819
CA309431301
657 P>L No ClinGen
gnomAD
CA309431304
rs866275311
657 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1400934792
CA406791479
659 A>E No ClinGen
gnomAD
CA406791491
rs1568521988
659 A>T No ClinGen
Ensembl
CA9570056
rs758445668
662 L>F No ClinGen
ExAC
gnomAD
rs900003015
CA309431296
663 M>I No ClinGen
TOPMed
gnomAD
CA406791393
rs1368460643
663 M>T No ClinGen
gnomAD
CA406791360
rs1167737824
664 I>V No ClinGen
gnomAD
TCGA novel 665 T>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1449017274
CA406791315
665 T>N No ClinGen
gnomAD
rs761892206
CA9570054
666 L>I No ClinGen
ExAC
TOPMed
gnomAD
rs1220241400
CA406791281
667 F>C No ClinGen
TOPMed
CA9570053
rs565735373
668 A>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756965653
CA9570052
669 I>F No ClinGen
ExAC
gnomAD
CA9570051
rs370218485
669 I>T No ClinGen
ESP
ExAC
TOPMed
CA309431282
rs776763168
670 V>A No ClinGen
TOPMed
CA406791196
rs1422110018
670 V>F No ClinGen
gnomAD
CA9570050
rs547226353
672 L>F No ClinGen
1000Genomes
ExAC
gnomAD
rs775956584
CA9570048
676 A>E No ClinGen
ExAC
gnomAD
TCGA novel 677 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 679 V>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs377694900
CA9570046
682 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA9570045
rs774404781
682 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA9570044
rs771069147
684 H>Y No ClinGen
ExAC
gnomAD
COSM3835360
rs374643137
CA9570042
688 F>L breast [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
TCGA novel 689 R>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1416484462
CA406790773
691 K>E No ClinGen
gnomAD
CA9570041
rs369578264
691 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA406790766
rs1348557747
691 K>R No ClinGen
TOPMed
gnomAD
COSM1196148
CA9570038
rs758392741
693 G>R lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA406790707
rs34486225
694 D>E No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA9570036
rs142309154
695 G>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA406790695
rs1249196287
695 G>V No ClinGen
gnomAD
rs753409719
CA9570034
697 M>I No ClinGen
ExAC
gnomAD
rs756661983
CA9570035
697 M>R No ClinGen
ExAC
TOPMed
gnomAD
rs1367952407
CA406790681
697 M>V No ClinGen
gnomAD
rs1250279685
CA406790577
701 T>I Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA309431154
rs185820245
702 S>T No ClinGen
1000Genomes
TOPMed
gnomAD
CA406790500
rs1275635421
708 Q>E No ClinGen
gnomAD
CA309431153
rs746736279
708 Q>R No ClinGen
Ensembl
CA406790484
rs1207689816
709 L>I No ClinGen
gnomAD
rs1355229644
CA406790468
710 T>P No ClinGen
gnomAD
CA309431147
rs199817296
712 S>N No ClinGen
TOPMed
gnomAD
rs199817296
CA309431146
712 S>T No ClinGen
TOPMed
gnomAD
CA309431139
rs563389489
713 K>E No ClinGen
1000Genomes
gnomAD
rs755832962
CA9570032
714 E>D No ClinGen
ExAC
TOPMed
CA9570031
rs779952062
715 V>F No ClinGen
ExAC
gnomAD
CA309431134
rs558366458
716 Q>E No ClinGen
TOPMed
rs767930473
CA9570030
716 Q>L No ClinGen
ExAC
CA406790335
rs760036326
718 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs760036326
CA9570029
718 E>Q No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 720 I>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA9570028
rs751999319
721 L>V No ClinGen
ExAC
gnomAD
CA406790262
rs926490532
722 Q>* No ClinGen
gnomAD
rs201374771
CA309431088
722 Q>H No ClinGen
Ensembl
CA309431089
rs926490532
722 Q>K No ClinGen
gnomAD
rs1321409677
CA406790178
727 K>E No ClinGen
gnomAD
CA9570026
rs762898845
729 P>A No ClinGen
ExAC
TOPMed
gnomAD
rs762898845
CA406790133
729 P>S No ClinGen
ExAC
TOPMed
gnomAD
rs1284433570
CA406790115
730 S>A No ClinGen
TOPMed
rs1165685108
CA406790107
730 S>L No ClinGen
gnomAD
rs371672312
CA9570025
734 V>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA309431073
rs750851604
734 V>M No ClinGen
Ensembl
rs1039807230
CA309431069
735 T>S No ClinGen
TOPMed
gnomAD

No associated diseases with Q9GZN6

No regional properties for Q9GZN6

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9GZN6

Functions

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

1 GO annotations of cellular component

Name Definition
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.

2 GO annotations of molecular function

Name Definition
neurotransmitter transmembrane transporter activity Enables the directed movement of a neurotransmitter into, out of or within a cell, or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.
symporter activity Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy.

4 GO annotations of biological process

Name Definition
neurotransmitter transport The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell.
nitrogen compound transport The directed movement of nitrogen-containing compounds into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
organic substance transport The directed movement of organic substances into, out of or within a cell, or between cells, or within a multicellular organism by means of some agent such as a transporter or pore. An organic substance is a molecular entity that contains carbon.
sodium ion transmembrane transport A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
P51143 SLC6A2 Sodium-dependent noradrenaline transporter Bos taurus (Bovine) PR
Q9XS59 SLC6A15 Sodium-dependent neutral amino acid transporter B(0)AT2 Bos taurus (Bovine) PR
Q9Y345 SLC6A5 Sodium- and chloride-dependent glycine transporter 2 Homo sapiens (Human) PR
Q9UN76 SLC6A14 Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) Homo sapiens (Human) PR
P30531 SLC6A1 Sodium- and chloride-dependent GABA transporter 1 Homo sapiens (Human) PR
P48029 SLC6A8 Sodium- and chloride-dependent creatine transporter 1 Homo sapiens (Human) PR
Q9NSD5 SLC6A13 Sodium- and chloride-dependent GABA transporter 2 Homo sapiens (Human) PR
P48066 SLC6A11 Sodium- and chloride-dependent GABA transporter 3 Homo sapiens (Human) PR
P31641 SLC6A6 Sodium- and chloride-dependent taurine transporter Homo sapiens (Human) PR
Q9H2J7 SLC6A15 Sodium-dependent neutral amino acid transporter B(0)AT2 Homo sapiens (Human) PR
Q9H1V8 SLC6A17 Sodium-dependent neutral amino acid transporter SLC6A17 Homo sapiens (Human) PR
P23975 SLC6A2 Sodium-dependent noradrenaline transporter Homo sapiens (Human) PR
Q9D687 Slc6a19 Sodium-dependent neutral amino acid transporter B(0)AT1 Mus musculus (Mouse) PR
O88576 Slc6a18 Sodium-dependent neutral amino acid transporter B(0)AT3 Mus musculus (Mouse) PR
O88575 Slc6a20b Sodium- and chloride-dependent transporter XTRP3B Mus musculus (Mouse) PR
Q8BJI1 Slc6a17 Sodium-dependent neutral amino acid transporter SLC6A17 Mus musculus (Mouse) PR
O55192 Slc6a2 Sodium-dependent noradrenaline transporter Mus musculus (Mouse) PR
Q64093 Slc6a20 Sodium- and chloride-dependent transporter XTRP3 Rattus norvegicus (Rat) PR
Q62687 Slc6a18 Sodium-dependent neutral amino acid transporter B(0)AT3 Rattus norvegicus (Rat) PR
P31662 Slc6a17 Sodium-dependent neutral amino acid transporter SLC6A17 Rattus norvegicus (Rat) PR
10 20 30 40 50 60
MKTEAQPSTS LLANTSWTGT VISDSVPGSQ TWEDKGSLTR SATSWTSEAQ VSAARVAEAQ
70 80 90 100 110 120
ARTSQPKQIS VLEALTASAL NQKPTHEKVQ MTEKKESEVL LARPFWSSKT EYILAQVGFS
130 140 150 160 170 180
MKPSCLWRFA YLWLNSGGCS FAAIYIFMLF LVGVPLLFLE MAAGQSMRQG GMGVWKIIAP
190 200 210 220 230 240
WIGGVGYSSF MVCFILGLYF NVVNSWIIFY MSQSFQFPVP WEKCPLTMNS SGFDPECERT
250 260 270 280 290 300
TPSIYFWYQQ ALKASDRIED GGSPVYSLVL PFFLCWCLVG AFMINGLKST GKVIYVLVLL
310 320 330 340 350 360
PCFIIVGFFI RTLLLEGAKF GLQQLVVAKI SDVYNMSVWS LAGGQVLSNT GIGLGSVASL
370 380 390 400 410 420
ASYMPQSNNC LSDAFLVSVI NLLTLLVFTS FNFCVLGFWA TVITHRCCER NAEILLKLIN
430 440 450 460 470 480
LGKLPPDAKP PVNLLYNPTS IYNAWLSGLP QHIKSMVLRE VTECNIETQF LKASEGPKFA
490 500 510 520 530 540
FLSFVEAMSF LPPSVFWSFI FFLMLLAMGL SSAIGIMQGI ITPLQDTFSF FRKHTKLLIV
550 560 570 580 590 600
GVFLLMFVCG LFFTRPSGSY FIRLLSDYWI VFPIIVVVVF ETMAVSWAYG ARRFLADLTI
610 620 630 640 650 660
LLGHPISPIF GWLWPHLCPV VLLIIFVTMM VHLCMKPITY MSWDSSTSKE VLRPYPPWAL
670 680 690 700 710 720
LLMITLFAIV ILPIPAYFVY CRIHRIPFRP KSGDGPMTAS TSLPLSHQLT PSKEVQKEEI
730
LQVDETKYPS TCNVTS