P48066
PR
Gene name |
SLC6A11 (GABT3, GAT3) |
Protein name |
Sodium- and chloride-dependent GABA transporter 3 |
Names |
GAT-3, Solute carrier family 6 member 11 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6538 |
EC number |
|
Protein Class |
|
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 P48066
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P48066-F1 | Predicted | AlphaFoldDB |
433 variants for P48066
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1382815962 CA351804556 |
2 | T>M | No |
ClinGen gnomAD |
|
|
CA351804576 rs1342914367 |
5 | K>M | No |
ClinGen TOPMed |
|
|
rs899928887 CA70485030 |
9 | L>M | No |
ClinGen TOPMed |
|
|
rs1350892313 CA351804600 |
10 | G>S | No |
ClinGen TOPMed |
|
|
rs1298248145 CA351804619 |
12 | G>V | No |
ClinGen gnomAD |
|
|
CA70485032 rs868722275 |
18 | A>E | No |
ClinGen Ensembl |
|
|
CA70485033 rs1050711792 |
19 | R>P | No |
ClinGen TOPMed |
|
|
rs1287782650 CA351804687 |
23 | A>T | No |
ClinGen gnomAD |
|
|
rs1008805036 CA70485035 |
24 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1008805036 CA351804694 |
24 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1488026836 CA351804698 |
25 | G>S | No |
ClinGen TOPMed |
|
|
CA70485036 rs553221653 |
26 | G>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1435742368 CA351804709 |
27 | G>S | No |
ClinGen TOPMed |
|
|
CA351804742 rs1287736364 |
31 | G>E | No |
ClinGen gnomAD |
|
|
rs1218677859 CA351804739 |
31 | G>W | No |
ClinGen TOPMed |
|
|
CA2254159 rs758188660 |
32 | G>D | No |
ClinGen ExAC TOPMed |
|
|
rs766125071 CA2254160 |
33 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351804760 rs1451859570 |
34 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 35 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1277001026 CA351804765 |
35 | P>L | No |
ClinGen TOPMed |
|
|
rs903083185 CA70485038 |
35 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1399802777 CA351804771 |
36 | A>E | No |
ClinGen TOPMed |
|
|
rs1575662296 CA351804766 |
36 | A>T | No |
ClinGen Ensembl |
|
|
CA351804774 rs1405654834 |
37 | R>C | No |
ClinGen gnomAD |
|
|
CA351804775 rs755212102 |
37 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254162 rs755212102 |
37 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007425807 CA70485041 |
38 | H>Q | No |
ClinGen TOPMed |
|
|
rs1425548650 CA351804786 |
39 | P>S | No |
ClinGen TOPMed |
|
|
rs199992589 CA2254165 |
41 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199992589 CA2254164 |
41 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2254166 rs756646747 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254167 rs778449777 |
44 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1186200 rs778449777 CA351804814 |
44 | D>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351804821 rs1260716488 |
45 | K>E | No |
ClinGen TOPMed |
|
|
rs1355708426 CA351804824 |
45 | K>R | No |
ClinGen gnomAD |
|
|
CA70485043 rs971563217 |
46 | A>E | No |
ClinGen TOPMed |
|
|
rs749861955 CA2254168 |
47 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351804833 rs1228900856 |
47 | V>I | No |
ClinGen gnomAD |
|
|
CA2254169 rs771300730 |
48 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351804845 rs1269132853 COSM3800863 |
49 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA351804853 rs1186033049 |
50 | R>C | No |
ClinGen gnomAD |
|
|
CA351804871 rs1237356065 |
52 | H>Q | No |
ClinGen gnomAD |
|
|
rs746661411 CA2254171 |
55 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409337659 CA351804925 |
59 | F>L | No |
ClinGen gnomAD |
|
|
CA2254173 rs776054331 |
60 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773100706 CA2254176 |
64 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254179 rs766182999 |
65 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254178 rs766182999 |
65 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254180 rs759732542 |
67 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs767843315 CA2254181 |
68 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 75 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351805022 rs1178232634 |
75 | R>C | No |
ClinGen TOPMed |
|
|
CA2254184 rs145428563 |
76 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757766850 CA2254186 |
80 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs893729021 CA351805081 |
83 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1248943626 CA351805085 |
84 | G>* | No |
ClinGen gnomAD |
|
|
CA70485045 rs939017846 |
84 | G>V | No |
ClinGen Ensembl |
|
|
rs1180747215 CA351805091 |
85 | G>A | No |
ClinGen TOPMed |
|
|
CA2254187 rs375552378 |
85 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351805140 rs1575663555 |
91 | P>S | No |
ClinGen Ensembl |
|
|
rs1449980125 CA541215061 |
92 | Y>* | No |
ClinGen gnomAD |
|
|
rs1171272210 CA351805147 |
92 | Y>S | No |
ClinGen gnomAD |
|
|
rs369801428 CA2254222 |
93 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162900773 CA351805157 |
94 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1232876094 CA351805168 |
95 | F>C | No |
ClinGen TOPMed |
|
|
rs1205645822 CA351805179 |
97 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 100 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351805216 rs761823778 |
102 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2254223 rs761823778 |
102 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs148561828 CA2254224 |
103 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1348615555 CA351805240 |
105 | F>L | No |
ClinGen TOPMed |
|
| rs1210471783 | 105 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1210471783 | 106 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254227 rs766670914 |
115 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA351805315 rs1436466742 |
117 | G>S | No |
ClinGen gnomAD |
|
|
rs755719780 CA2254229 |
118 | G>D | No |
ClinGen ExAC |
|
|
rs1338209544 CA351805326 |
119 | I>V | No |
ClinGen gnomAD |
|
|
rs1265697282 CA351805337 |
120 | T>M | No |
ClinGen gnomAD |
|
|
rs772153675 CA2254235 |
127 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372573459 CA2254236 |
129 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398507605 CA351805411 |
131 | G>S | No |
ClinGen TOPMed |
|
|
rs749162542 CA70485389 |
133 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1161671897 CA351805445 |
134 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs891572485 CA70485391 |
142 | H>L | No |
ClinGen Ensembl |
|
|
CA2254252 rs144440521 |
142 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 146 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370966529 CA2254253 |
148 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2254254 rs780162860 |
149 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 151 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70485393 rs1013901298 |
152 | A>E | No |
ClinGen Ensembl |
|
|
CA2254257 rs781097600 |
152 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs866094914 CA70485394 COSM1692379 |
154 | A>T | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1241093112 CA351805580 |
155 | I>V | No |
ClinGen Ensembl |
|
|
CA351805598 rs1298889817 |
157 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs374893074 CA2254259 |
160 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748259015 CA2254258 |
160 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772158938 CA70485395 |
163 | T>A | No |
ClinGen Ensembl |
|
|
rs1282313788 CA351805643 |
164 | T>A | No |
ClinGen gnomAD |
|
|
CA351805647 rs1486699702 |
164 | T>I | No |
ClinGen gnomAD |
|
|
CA351805664 rs1313522684 |
167 | P>H | No |
ClinGen gnomAD |
|
|
rs1179362207 CA351805672 |
168 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2254262 rs771044338 |
168 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA351805682 rs1224970368 |
170 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351805685 rs1423498251 |
170 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA351805700 rs1559550946 |
172 | G>E | No |
ClinGen Ensembl |
|
|
rs866505292 CA70485396 |
175 | W>* | No |
ClinGen Ensembl |
|
|
rs200219573 CA70485397 |
176 | N>S | No |
ClinGen TOPMed |
|
|
CA2254283 rs759905316 |
181 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351805775 rs1448176301 |
181 | V>M | No |
ClinGen gnomAD |
|
|
CA351805783 rs1419602402 |
182 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351805787 rs1411099958 |
182 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA351805784 rs1419602402 |
182 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351805798 rs1162265495 |
184 | Q>* | No |
ClinGen gnomAD |
|
|
rs372992437 CA70485768 |
184 | Q>R | No |
ClinGen TOPMed |
|
|
rs1348901964 CA351805823 |
187 | N>K | No |
ClinGen gnomAD |
|
|
rs528959859 CA70485769 |
188 | V>M | No |
ClinGen Ensembl |
|
|
CA2254286 rs553471364 |
190 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 190 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559551814 CA351805840 |
190 | N>S | No |
ClinGen Ensembl |
|
|
CA2254287 rs764603691 |
192 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs189987233 CA2254288 |
193 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762763871 CA2254289 |
194 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs765927394 CA351805913 |
201 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2254290 rs765927394 |
201 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351805917 rs1405589289 |
202 | P>S | No |
ClinGen TOPMed |
|
|
rs754830826 CA2254292 |
204 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254309 rs762627001 |
210 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472160006 CA351805995 |
210 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA351806000 rs1410128955 |
211 | V>D | No |
ClinGen gnomAD |
|
|
rs766159425 CA2254310 |
211 | V>I | No |
ClinGen ExAC |
|
|
CA2254312 rs759059937 |
213 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA70488192 rs1001421585 |
214 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 216 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351806033 COSM580690 rs1348808621 |
217 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1036154 rs1015213854 CA70488193 |
219 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
COSM108552 CA70488194 rs143124941 |
220 | H>Q | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA351806058 rs1280471790 |
220 | H>R | No |
ClinGen gnomAD |
|
|
CA2254316 rs763821768 |
221 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753638124 COSM180727 CA2254317 |
222 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA2254318 rs757434400 |
225 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3780620 CA2254319 rs779133280 |
225 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1249191622 CA351806122 |
230 | L>F | No |
ClinGen gnomAD |
|
|
CA2254321 rs758475114 |
231 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1227779107 CA351806140 |
233 | L>S | No |
ClinGen TOPMed |
|
|
CA351806144 rs1329569756 |
234 | A>S | No |
ClinGen TOPMed |
|
|
rs780066854 CA2254322 |
235 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234387158 COSM1536002 CA351806152 |
235 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1171936688 CA351806161 |
236 | W>* | No |
ClinGen gnomAD |
|
|
CA2254324 rs747540325 |
238 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2254323 rs747540325 |
238 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2254326 rs748541602 |
240 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1412730686 CA351806201 |
242 | C>Y | No |
ClinGen TOPMed |
|
|
CA351806207 rs1368996516 |
243 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351776330 rs1260876582 |
253 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 255 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254361 rs138109295 |
256 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138109295 CA351776374 |
256 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351776395 rs1333446798 |
257 | T>I | No |
ClinGen TOPMed |
|
|
rs1164735795 CA351776435 |
260 | F>S | No |
ClinGen gnomAD |
|
|
rs749648291 CA2254365 |
263 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs771707720 CA2254366 |
265 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2254368 rs746708886 |
270 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs148718063 CA2254370 |
271 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351776585 rs1293467197 |
271 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351776581 rs1293467197 |
271 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs61739720 CA2254372 RCV000966849 |
273 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773008146 CA2254373 |
274 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774710239 CA2254376 |
275 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA2254378 rs767646133 |
277 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs752826344 CA2254379 |
278 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA351776722 rs1371217288 |
283 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 284 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764533012 CA2254381 |
284 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 290 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254382 rs199738480 |
290 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779321533 CA2254384 |
292 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757531916 CA2254383 |
292 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA70089565 rs1011717879 |
294 | S>F | No |
ClinGen Ensembl |
|
|
CA2254385 rs746655671 |
295 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351776884 rs1356919073 |
296 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA351776888 rs1226396502 |
296 | P>R | No |
ClinGen gnomAD |
|
|
CA351776886 rs1356919073 |
296 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2254387 rs780616136 |
297 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 298 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 300 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143274775 CA351780164 |
300 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs143274775 CA70117516 |
300 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2254403 rs150351768 |
301 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1412595454 CA351780169 |
301 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1193989018 CA351780176 |
302 | A>T | No |
ClinGen TOPMed |
|
|
CA2254404 rs754572937 |
303 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351780200 rs1193789777 |
304 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1407655973 CA351780230 |
307 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351780270 rs1169314576 |
309 | S>F | No |
ClinGen gnomAD |
|
|
rs747871056 CA2254406 |
310 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs747871056 CA351780281 |
310 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 313 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441528635 CA351786060 |
319 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs774246203 CA2254411 |
324 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs892637680 CA70086467 |
325 | N>S | No |
ClinGen gnomAD |
|
|
rs1208664933 CA351786196 |
327 | N>D | No |
ClinGen TOPMed |
|
|
CA2254437 rs201319270 |
335 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254438 rs769899743 |
336 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA70089294 rs144692520 |
337 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA351786295 rs1345871226 |
338 | C>W | No |
ClinGen gnomAD |
|
|
rs763505674 CA2254440 |
340 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA351786324 rs1286288748 |
343 | G>S | No |
ClinGen gnomAD |
|
|
rs1223730641 CA351786346 |
346 | F>V | No |
ClinGen gnomAD |
|
|
rs376135284 CA2254445 |
347 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756798347 CA2254447 |
350 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA351786376 rs1485778766 |
351 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA351786407 rs1200292092 |
355 | V>A | No |
ClinGen TOPMed |
|
|
CA351786430 rs1321066810 |
359 | M>L | No |
ClinGen TOPMed |
|
|
rs1469381720 CA351786437 |
360 | A>T | No |
ClinGen gnomAD |
|
|
rs183457681 CA2254448 |
360 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA70089355 COSM108957 rs141411603 |
362 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1375110364 CA351786465 |
364 | G>R | No |
ClinGen gnomAD |
|
|
CA351786473 rs1336341087 |
365 | V>L | No |
ClinGen gnomAD |
|
|
rs1334358387 CA351786484 |
367 | I>V | No |
ClinGen gnomAD |
|
|
CA70089378 rs769170463 |
368 | A>D | No |
ClinGen Ensembl |
|
|
CA351786506 rs1575702827 |
370 | V>G | No |
ClinGen Ensembl |
|
|
rs370801289 CA2254478 |
375 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770963281 CA2254480 |
376 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460139306 CA351786562 |
378 | A>T | No |
ClinGen gnomAD |
|
|
rs1190944269 CA351786567 |
378 | A>V | No |
ClinGen TOPMed |
|
|
rs918756308 CA70092535 |
380 | I>V | No |
ClinGen TOPMed |
|
|
CA351786582 rs1325858319 |
381 | A>T | No |
ClinGen gnomAD |
|
|
COSM1417602 CA2254481 rs774891377 |
381 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA70092549 rs368046949 |
384 | K>E | No |
ClinGen Ensembl |
|
|
CA70092554 rs888538842 COSM445285 |
385 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 388 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761493433 CA2254485 |
389 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA70092587 rs901199318 |
393 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 395 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254490 rs751498777 |
396 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2254491 rs751498777 |
396 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2254492 rs374204629 |
396 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA70092618 rs1030285454 |
397 | T>N | No |
ClinGen TOPMed |
|
|
CA2254494 TCGA novel rs756280414 |
399 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs777948757 CA2254495 |
401 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369589745 CA351786713 |
401 | M>R | No |
ClinGen gnomAD |
|
|
CA351786711 rs777948757 |
401 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs754098162 CA2254496 |
402 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1156361370 CA351786728 |
403 | L>F | No |
ClinGen gnomAD |
|
|
rs955895033 CA70092620 COSM378760 |
407 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA351786774 rs1353156098 |
410 | S>N | No |
ClinGen gnomAD |
|
|
CA70094571 rs975832737 |
414 | C>R | No |
ClinGen Ensembl |
|
|
rs754080078 CA2254515 |
415 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs757433552 CA2254516 COSM1417603 |
421 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1180035388 CA351786867 |
422 | V>A | No |
ClinGen gnomAD |
|
|
CA2254518 rs374491666 |
422 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1176368433 CA351786871 |
423 | V>A | No |
ClinGen gnomAD |
|
|
rs780688206 CA2254520 |
423 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2254521 rs747562484 |
425 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs769125949 CA2254522 |
426 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2254523 rs781697494 |
428 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254524 rs556320394 |
429 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1301086522 CA351786923 COSM1642045 |
431 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1669968 CA70094601 rs979049585 |
431 | R>W | large_intestine Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1368877633 CA351786928 |
432 | R>K | No |
ClinGen gnomAD |
|
|
CA2254526 rs773861046 |
435 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747022009 CA2254525 |
435 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs202136147 CA2254528 |
436 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527421623 CA2254527 |
436 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA351786957 rs1202948613 |
437 | E>G | No |
ClinGen gnomAD |
|
|
CA351786962 rs1251097562 |
438 | L>V | No |
ClinGen gnomAD |
|
|
CA2254529 rs775400339 |
439 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760663997 CA2254530 |
440 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765403813 CA2254534 |
443 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2254533 rs75582467 |
443 | L>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1559587339 CA351786999 |
445 | V>I | No |
ClinGen Ensembl |
|
|
rs1282071472 CA351787007 |
446 | I>F | No |
ClinGen TOPMed |
|
|
CA2254535 rs750709134 |
448 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM271890 rs548624556 CA2254538 |
453 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351787056 rs1345902354 |
454 | M>V | No |
ClinGen gnomAD |
|
|
rs200516306 CA2254567 |
458 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2254569 rs138218711 |
460 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773059470 CA351787125 |
462 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254570 rs773059470 |
462 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351787163 rs1575709189 |
467 | D>A | No |
ClinGen Ensembl |
|
|
rs372986506 CA2254572 |
468 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774761515 CA2254573 |
469 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254574 rs759654891 |
470 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1449158693 CA351787217 |
475 | C>Y | No |
ClinGen gnomAD |
|
|
CA351787242 rs147014534 |
479 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254576 rs147014534 COSM107967 |
479 | V>M | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs866552407 CA70098037 COSM1036181 |
480 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1309337363 CA351787255 |
481 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs547103268 CA2254577 |
481 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351787259 rs1184535936 |
482 | F>L | No |
ClinGen TOPMed |
|
|
rs376576191 CA2254578 |
482 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370309787 CA2254579 |
484 | C>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757998838 CA2254580 |
485 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA351787281 rs1240791471 |
485 | I>N | No |
ClinGen TOPMed |
|
|
CA70098086 rs757998838 |
485 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779661006 CA2254581 |
487 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA351787296 rs1215683367 |
487 | I>T | No |
ClinGen TOPMed |
|
|
CA70098105 rs902927987 |
488 | G>S | No |
ClinGen TOPMed |
|
|
rs780815843 CA2254584 |
490 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1056782169 CA70098140 |
491 | Y>* | No |
ClinGen Ensembl |
|
|
rs1575709244 CA351787320 |
491 | Y>D | No |
ClinGen Ensembl |
|
|
CA70098829 COSM1692382 rs543528698 |
492 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769798349 CA2254586 |
492 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA351787355 rs1438183702 |
494 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752271294 CA2254602 |
494 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA351787359 rs777821052 |
495 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777821052 CA351787358 |
495 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254604 rs777821052 |
495 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925442588 CA70098839 |
497 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351787379 rs1180830649 |
498 | D>G | No |
ClinGen TOPMed |
|
|
rs1443159895 CA351787395 |
500 | I>T | No |
ClinGen TOPMed |
|
|
CA2254605 rs749302476 |
500 | I>V | No |
ClinGen ExAC |
|
|
CA2254606 rs201024413 |
501 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351787416 rs1444677390 |
503 | M>R | No |
ClinGen TOPMed |
|
|
CA2254607 rs778862873 |
504 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254608 rs746010699 |
505 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA351787438 CA2254609 rs772370091 |
506 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787433 rs1201320952 |
506 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 506 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171798828 CA351787442 |
507 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1477729322 CA351787440 |
507 | R>W | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs147153908 CA2254611 |
509 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147153908 CA2254612 |
509 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2254614 rs762369074 |
510 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787460 rs1387964824 |
511 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs550701310 CA2254617 |
512 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA70098896 rs908784414 |
513 | K>Q | No |
ClinGen Ensembl |
|
|
rs1400427203 CA351787483 |
514 | W>L | No |
ClinGen gnomAD |
|
|
CA2254618 rs767172687 |
515 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254620 rs755643047 |
517 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254619 rs752330011 |
517 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA351787522 COSM1692383 rs1357172717 |
519 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
RCV000888676 CA2254621 rs75951495 |
519 | M>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1211695891 CA351787530 |
520 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1211695891 CA351787528 |
520 | T>N | No |
ClinGen TOPMed gnomAD |
|
| rs1320790036 | 525 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61730121 CA351787560 |
525 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757265540 CA2254623 |
525 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254624 rs61730121 |
525 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA70099748 rs956753617 |
528 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773762734 CA2254652 |
529 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774582956 CA2254655 |
533 | I>N | No |
ClinGen ExAC TOPMed |
|
|
rs774582956 CA70099757 |
533 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA2254657 rs76052721 |
535 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1310632803 CA351787640 |
535 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760362609 CA2254656 |
535 | Y>N | No |
ClinGen ExAC |
|
|
rs1256941558 CA351787650 COSM4136471 |
536 | K>N | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs138365103 CA2254660 |
538 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2254661 rs750363342 |
539 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199532465 CA2254662 |
539 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1179932761 CA351787686 |
542 | N>H | No |
ClinGen gnomAD |
|
| rs1420781036 | 542 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351787690 rs1575710204 |
542 | N>K | No |
ClinGen Ensembl |
|
|
CA2254663 rs372018728 |
543 | I>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351787696 rs1432217816 |
543 | I>S | No |
ClinGen gnomAD |
|
|
CA2254665 rs754812083 |
545 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787714 rs1575710219 |
546 | Y>S | No |
ClinGen Ensembl |
|
|
CA70099781 rs367892382 |
548 | A>T | No |
ClinGen Ensembl |
|
|
CA351787778 rs1299964854 |
555 | W>* | No |
ClinGen gnomAD |
|
|
rs1450808272 CA351787783 |
556 | L>F | No |
ClinGen TOPMed |
|
|
rs1450808272 CA351787782 |
556 | L>V | No |
ClinGen TOPMed |
|
|
CA351787788 rs1575710241 |
557 | M>L | No |
ClinGen Ensembl |
|
|
CA351787791 rs1290391816 |
557 | M>T | No |
ClinGen TOPMed |
|
|
CA351787804 rs1575710248 |
559 | L>P | No |
ClinGen Ensembl |
|
|
CA351787819 rs1575710260 |
562 | M>L | No |
ClinGen Ensembl |
|
|
CA351787833 rs1559589695 |
563 | L>R | No |
ClinGen Ensembl |
|
|
CA2254671 rs771372048 |
565 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787842 rs771372048 |
565 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787852 COSM1159397 rs1300245826 |
566 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA2254672 rs779288335 |
566 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2254674 rs375857144 |
569 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351787869 rs375857144 |
569 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351787874 rs1244486587 |
570 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1169263310 CA351787884 |
571 | I>N | No |
ClinGen TOPMed |
|
|
rs761618030 CA2254676 |
571 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs115381948 CA2254678 |
572 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115381948 CA70099841 |
572 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2254680 rs766200550 |
573 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2254679 rs762912572 |
573 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254681 rs751534778 |
575 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2254682 rs759318965 |
576 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254683 rs759318965 |
576 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351787920 rs1456333090 |
577 | E>G | No |
ClinGen TOPMed |
|
|
rs866675254 CA70099919 |
578 | G>E | No |
ClinGen Ensembl |
|
|
CA2254686 rs777869553 |
579 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70099950 rs548247884 |
581 | P>T | No |
ClinGen Ensembl |
|
|
rs1398607624 CA351787944 |
582 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 585 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749038910 CA2254715 |
587 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs376294207 CA70102209 |
588 | T>A | No |
ClinGen ESP TOPMed |
|
|
CA2254716 rs770282570 COSM1226508 |
588 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2254717 rs773867406 |
589 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246220946 CA351788700 |
590 | P>R | No |
ClinGen TOPMed |
|
|
CA351788692 rs1449414753 |
590 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351788710 rs1339192507 |
591 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254720 rs139617778 |
597 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142712079 COSM177609 CA2254719 |
597 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2254722 rs141315942 |
598 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776712326 CA2254723 |
600 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759607989 CA2254726 |
602 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759607989 CA2254725 |
602 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2254728 rs78425241 |
603 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 604 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 605 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2254730 rs755297702 |
605 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2254729 rs752171053 |
605 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1022442707 CA70102281 |
606 | M>T | No |
ClinGen Ensembl |
|
|
CA2254731 rs145036467 |
608 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA351788953 rs1307096755 |
609 | V>F | No |
ClinGen TOPMed |
|
|
rs748837206 CA2254732 |
609 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA70102315 rs891167894 |
610 | N>I | No |
ClinGen TOPMed |
|
|
CA2254734 rs778356097 |
612 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA351789033 rs1171624319 |
613 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 614 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745350953 CA70102361 |
619 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs367894283 CA351789094 CA2254736 |
620 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC TOPMed gnomAD NCI-TCGA |
|
rs1173244576 CA351789100 |
621 | T>A | No |
ClinGen TOPMed |
|
|
CA351789098 rs1173244576 |
621 | T>P | No |
ClinGen TOPMed |
|
|
CA2254738 rs747033843 |
623 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351789143 rs1483560356 |
628 | K>E | No |
ClinGen TOPMed |
|
|
CA2254742 COSM1265997 rs761889287 |
630 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA70102471 rs961024344 |
632 | F>L | No |
ClinGen Ensembl |
No associated diseases with P48066
No regional properties for P48066
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for P48066 | |||
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| GABA-ergic synapse | A synapse that uses GABA as a neurotransmitter. These synapses are typically inhibitory. |
| integral component of membrane | The component of a 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. |
| 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. |
| integral component of postsynaptic membrane | The component of the postsynaptic 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. |
| integral component of presynaptic membrane | The component of the presynaptic 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. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| gamma-aminobutyric acid:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: gamma-aminobutyric acid(out) + Na+(out) + Cl-(out) = gamma-aminobutyric acid(in) + Na+(in) + Cl(in). |
| monocarboxylic acid transmembrane transporter activity | Enables the transfer of monocarboxylic acids from one side of a membrane to the other. A monocarboxylic acid is an organic acid with one COOH group. |
| neurotransmitter binding | Binding to a neurotransmitter, any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| taurine:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: taurine(out) + Na+(out) = taurine(in) + Na+(in). |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
| gamma-aminobutyric acid reuptake | The uptake of gamma-aminobutyric acid (GABA, 4-aminobutyrate) by neurons or glial cells. This process leads to inactivation and recycling of neurotransmitters. |
| monocarboxylic acid transport | The directed movement of monocarboxylic acids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| response to xenobiotic stimulus | 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 stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| 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. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O18875 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Bos taurus (Bovine) | PR |
| Q9MZ34 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Bos taurus (Bovine) | PR |
| Q9W4C5 | NAAT1 | Sodium-dependent nutrient amino acid transporter 1 | Drosophila melanogaster (Fruit fly) | 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 |
| 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 |
| Q9GZN6 | SLC6A16 | Orphan sodium- and chloride-dependent neurotransmitter transporter NTT5 | Homo sapiens (Human) | PR |
| P23975 | SLC6A2 | Sodium-dependent noradrenaline transporter | Homo sapiens (Human) | PR |
| O35316 | Slc6a6 | Sodium- and chloride-dependent taurine transporter | Mus musculus (Mouse) | PR |
| P31648 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Mus musculus (Mouse) | PR |
| Q9JMA9 | Slc6a14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Mus musculus (Mouse) | PR |
| Q8VBW1 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Mus musculus (Mouse) | PR |
| Q761V0 | Slc6a5 | Sodium- and chloride-dependent glycine transporter 2 | Mus musculus (Mouse) | PR |
| P31649 | Slc6a13 | Sodium- and chloride-dependent GABA transporter 2 | Mus musculus (Mouse) | PR |
| P31650 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Mus musculus (Mouse) | PR |
| P23978 | Slc6a1 | Sodium- and chloride-dependent GABA transporter 1 | Rattus norvegicus (Rat) | PR |
| P28570 | Slc6a8 | Sodium- and chloride-dependent creatine transporter 1 | Rattus norvegicus (Rat) | PR |
| P31647 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Rattus norvegicus (Rat) | PR |
| O76689 | snf-6 | Sodium-dependent acetylcholine transporter | Caenorhabditis elegans | PR |
| G5EBN9 | snf-3 | Sodium- and chloride-dependent betaine transporter | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTAEKALPLG | NGKAAEEARE | SEAPGGGCSS | GGAAPARHPR | VKRDKAVHER | GHWNNKVEFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LSVAGEIIGL | GNVWRFPYLC | YKNGGGAFLI | PYVVFFICCG | IPVFFLETAL | GQFTSEGGIT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CWRKVCPLFE | GIGYATQVIE | AHLNVYYIII | LAWAIFYLSN | CFTTELPWAT | CGHEWNTENC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VEFQKLNVSN | YSHVSLQNAT | SPVMEFWEHR | VLAISDGIEH | IGNLRWELAL | CLLAAWTICY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FCIWKGTKST | GKVVYVTATF | PYIMLLILLI | RGVTLPGASE | GIKFYLYPDL | SRLSDPQVWV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DAGTQIFFSY | AICLGCLTAL | GSYNNYNNNC | YRDCIMLCCL | NSGTSFVAGF | AIFSVLGFMA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YEQGVPIAEV | AESGPGLAFI | AYPKAVTMMP | LSPLWATLFF | MMLIFLGLDS | QFVCVESLVT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AVVDMYPKVF | RRGYRRELLI | LALSVISYFL | GLVMLTEGGM | YIFQLFDSYA | ASGMCLLFVA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IFECICIGWV | YGSNRFYDNI | EDMIGYRPPS | LIKWCWMIMT | PGICAGIFIF | FLIKYKPLKY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NNIYTYPAWG | YGIGWLMALS | SMLCIPLWIC | ITVWKTEGTL | PEKLQKLTTP | STDLKMRGKL |
| 610 | 620 | 630 | |||
| GVSPRMVTVN | DCDAKLKSDG | TIAAITEKET | HF |