Q9NSD5
PR
Gene name |
SLC6A13 (GAT2) |
Protein name |
Sodium- and chloride-dependent GABA transporter 2 |
Names |
GAT-2, Solute carrier family 6 member 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6540 |
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 Q9NSD5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NSD5-F1 | Predicted | AlphaFoldDB |
542 variants for Q9NSD5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA383599662 rs1236167026 RCV000660568 RCV002530578 |
277 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs560948602 CA231396955 |
2 | D>G | No |
ClinGen gnomAD |
|
|
CA383608039 rs1457744084 |
3 | S>N | No |
ClinGen gnomAD |
|
|
CA383608021 rs1206034551 |
4 | R>K | No |
ClinGen gnomAD |
|
|
CA383608009 rs1591877437 |
5 | V>I | No |
ClinGen Ensembl |
|
|
CA383607942 rs774804369 |
8 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6378428 rs774804369 |
8 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs766859380 CA6378427 |
9 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383607925 rs1284672048 |
10 | S>C | No |
ClinGen TOPMed |
|
|
CA6378426 rs763455338 |
12 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383607870 rs1320958936 |
12 | G>V | No |
ClinGen TOPMed |
|
|
rs1307844221 CA383607867 |
13 | E>K | No |
ClinGen gnomAD |
|
|
CA6378425 rs372343942 |
14 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6378423 rs200173207 |
14 | T>I | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA383607808 rs1458053751 |
16 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs149779165 CA231396927 |
16 | P>L | No |
ClinGen ESP |
|
|
CA6378422 rs537541659 |
17 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383607779 rs1406556885 |
18 | Y>C | No |
ClinGen gnomAD |
|
|
rs748228106 CA6378421 |
19 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1364999956 CA383607754 |
20 | V>I | No |
ClinGen gnomAD |
|
|
CA231396878 rs762568954 |
21 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236955931 CA383607699 |
23 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383607685 rs1206127608 |
25 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6378418 rs747254485 |
26 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1412410760 CA383607645 |
28 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs371295073 CA6378414 |
32 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749235175 CA6378415 |
32 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 33 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6378413 rs755616427 |
33 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6378411 rs767155440 |
34 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6378410 rs754616638 COSM938876 |
35 | W>* | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6378409 rs368185304 |
37 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1283895282 CA383607547 |
37 | N>T | No |
ClinGen TOPMed |
|
|
CA383607508 rs1591877164 |
40 | E>Q | No |
ClinGen Ensembl |
|
|
rs766765922 CA6378407 |
41 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6378405 rs750923604 |
44 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1478747003 CA383607422 |
45 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765705991 CA6378404 |
46 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765705991 CA383607415 |
46 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383607401 rs1185922525 |
47 | G>R | No |
ClinGen gnomAD |
|
|
rs762340605 CA6378403 |
48 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1246091015 CA383607357 |
49 | I>V | No |
ClinGen gnomAD |
|
|
CA6378402 rs776644454 |
50 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1237239122 CA383607336 |
50 | I>V | No |
ClinGen gnomAD |
|
|
rs1187877781 CA383607318 |
51 | G>R | No |
ClinGen gnomAD |
|
|
CA6378400 COSM938874 rs140679008 |
55 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6378397 rs749076542 |
56 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs770736821 CA6378398 |
56 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA383607201 rs1591877021 |
57 | R>G | No |
ClinGen Ensembl |
|
|
CA383607197 rs1207831576 |
57 | R>K | No |
ClinGen gnomAD |
|
|
CA383607180 rs1591877007 |
58 | F>V | No |
ClinGen Ensembl |
|
|
rs995069701 CA231396681 |
59 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs374030646 CA231396675 |
61 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1283370453 CA383607114 |
62 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6378396 rs777653130 |
65 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA383607059 rs1565511971 |
65 | N>S | No |
ClinGen Ensembl |
|
|
rs748106331 CA6378394 |
66 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs769567476 CA6378395 |
66 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1358037747 CA383607027 CA383607029 |
67 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
| TCGA novel | 68 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383604424 rs1475149585 |
68 | G>D | No |
ClinGen TOPMed |
|
|
rs147275386 CA6378346 |
76 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751712343 CA6378344 |
80 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231382418 rs1020542784 |
80 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766751945 CA6378343 |
81 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6378342 rs145400207 |
82 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383604197 rs145400207 |
82 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383604184 rs1306868730 |
83 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1321939144 CA383604161 |
84 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs919418984 CA231382393 |
89 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA383604037 rs760465048 |
90 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6378339 rs760465048 |
90 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231382384 rs972152574 |
92 | L>V | No |
ClinGen gnomAD |
|
|
rs960085071 CA231382381 |
93 | G>S | No |
ClinGen TOPMed |
|
|
rs1475773656 CA383603963 |
95 | Y>C | No |
ClinGen TOPMed |
|
|
rs150889568 CA6378337 |
95 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6378336 rs745423251 |
96 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6378335 rs773882024 |
96 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA231382361 rs1007980833 |
97 | S>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 98 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383603899 rs1414255944 |
98 | Q>R | No |
ClinGen gnomAD |
|
|
CA383603888 rs1468079797 |
99 | G>A | No |
ClinGen TOPMed |
|
|
CA383603884 rs1468079797 |
99 | G>V | No |
ClinGen TOPMed |
|
|
rs1370192348 CA383603878 |
100 | G>D | No |
ClinGen gnomAD |
|
|
CA6378333 rs543043546 |
100 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1370192348 CA383603875 |
100 | G>V | No |
ClinGen gnomAD |
|
|
rs756565821 CA6378331 COSM1606040 |
101 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA383603870 rs756565821 |
101 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411386367 CA383603855 |
102 | T>A | No |
ClinGen gnomAD |
|
|
CA6378330 rs748585900 |
102 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383603806 rs1488436998 |
104 | W>C | No |
ClinGen gnomAD |
|
|
CA383603792 rs1261809663 |
105 | R>K | No |
ClinGen gnomAD |
|
|
rs538870925 CA6378329 |
109 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383603478 rs1197612180 |
114 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6378304 rs779328529 |
114 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383603445 rs1219665402 |
115 | G>A | No |
ClinGen TOPMed |
|
|
CA383603430 rs1431939485 |
116 | Y>C | No |
ClinGen gnomAD |
|
|
CA6378303 rs757451594 |
118 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383603380 rs1282966877 |
119 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 121 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 122 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6378302 rs369072954 |
122 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383603281 rs1287381395 |
124 | L>F | No |
ClinGen gnomAD |
|
|
rs759450708 CA6378300 |
126 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA383603217 rs765859740 COSM332614 |
127 | V>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765859740 COSM1360727 CA6378298 |
127 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs140692087 CA6378297 |
128 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs772817442 CA6378296 |
129 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1447464364 CA383603141 |
130 | I>S | No |
ClinGen gnomAD |
|
|
CA383603123 rs1375831288 |
131 | I>T | No |
ClinGen gnomAD |
|
|
CA6378295 rs769452029 |
132 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 133 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6378294 rs761398791 |
134 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6378293 rs776999899 |
136 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA231381592 rs996350022 |
136 | A>V | No |
ClinGen Ensembl |
|
|
CA383603020 rs1171647779 |
138 | F>V | No |
ClinGen gnomAD |
|
|
rs1464057477 CA383602997 |
139 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA383602930 rs1439664494 |
143 | S>T | No |
ClinGen gnomAD |
|
|
CA383602888 rs1236708316 |
145 | T>I | No |
ClinGen gnomAD |
|
|
CA6378289 rs772258037 |
146 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6378287 rs778879939 |
147 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1315561319 CA383602841 |
149 | P>L | No |
ClinGen TOPMed |
|
|
rs1053906803 CA231381569 |
149 | P>S | No |
ClinGen Ensembl |
|
|
CA231381564 rs200539008 |
150 | W>R | No |
ClinGen TOPMed |
|
|
CA383602822 rs1198970018 |
151 | G>R | No |
ClinGen gnomAD |
|
|
CA231381559 rs375633418 |
152 | G>C | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 152 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383602811 rs375633418 |
152 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754822008 CA6378284 |
154 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs754822008 CA6378283 |
154 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA383602769 rs1352966529 |
155 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs766341069 CA6378281 |
157 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs758366835 CA6378279 |
158 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1222361291 CA383602328 |
161 | H>P | No |
ClinGen gnomAD |
|
|
CA383602322 rs1383746277 |
162 | C>Y | No |
ClinGen gnomAD |
|
|
CA6378244 rs748385254 |
163 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs779762830 CA6378243 |
164 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1400304975 CA383602296 |
165 | F>L | No |
ClinGen gnomAD |
|
|
rs1050492588 CA231377819 |
168 | T>S | No |
ClinGen gnomAD |
|
|
rs1447622848 CA383602256 |
169 | N>S | No |
ClinGen gnomAD |
|
|
CA6378241 rs188127450 |
170 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6378240 rs775118483 |
171 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1053737766 CA231377801 |
175 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6378238 rs372402934 |
175 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6378239 rs372402934 |
175 | T>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1167194214 CA383602170 |
178 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777433614 CA6378236 |
178 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383602142 rs1482753219 |
180 | T>I | No |
ClinGen gnomAD |
|
|
CA383602146 rs1449375542 |
180 | T>S | No |
ClinGen gnomAD |
|
|
rs923834969 CA231377778 |
181 | S>F | No |
ClinGen gnomAD |
|
|
rs923834969 CA383602136 |
181 | S>Y | No |
ClinGen gnomAD |
|
|
rs752464448 CA6378234 |
182 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs765557068 CA6378232 |
183 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765557068 CA6378233 |
183 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383602112 rs148818725 |
184 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6378230 COSM1686165 rs138506621 |
185 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA383602065 rs1313942235 |
187 | W>G | No |
ClinGen gnomAD |
|
|
CA6378210 rs140951084 COSM431041 |
189 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6378211 rs144675285 |
189 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751000191 CA6378207 |
190 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374740428 CA6378208 COSM3782719 |
190 | R>W | Variant assessed as Somatic; 4.624e-05 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383601563 rs1591839847 |
191 | V>G | No |
ClinGen Ensembl |
|
|
rs776803758 CA6378204 |
194 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs149920040 CA6378203 |
196 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383601498 rs1434397500 |
196 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 197 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193581082 CA383601463 |
198 | I>N | No |
ClinGen gnomAD |
|
|
CA383601432 rs1467386060 |
200 | H>N | No |
ClinGen gnomAD |
|
|
CA6378199 rs749168568 |
203 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA383601386 rs137977371 |
203 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6378200 rs137977371 |
203 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 203 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199825876 CA6378198 |
205 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6378196 rs373279173 |
205 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373279173 CA6378197 |
205 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780869746 CA6378195 |
206 | W>* | No |
ClinGen ExAC |
|
|
rs746681927 CA6378193 |
208 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383601285 rs1323553868 |
210 | L>P | No |
ClinGen TOPMed |
|
|
rs1301840439 CA383601292 |
210 | L>V | No |
ClinGen gnomAD |
|
|
CA231377225 rs932519834 |
211 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6378190 rs750911073 |
217 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150359005 CA6378188 |
218 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395231988 CA383601186 |
218 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1395231988 CA383601184 |
218 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6378189 rs150359005 |
218 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383601110 rs1165802316 |
223 | I>L | No |
ClinGen gnomAD |
|
|
rs760801577 CA6378185 |
226 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753868127 CA383601053 |
226 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs760801577 CA6378186 |
226 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753868127 CA6378187 |
226 | G>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 227 | V>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA231377157 rs751603778 |
227 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 229 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383600278 rs1349643350 |
233 | V>M | No |
ClinGen gnomAD |
|
|
rs761840670 CA6378159 |
236 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776691123 CA6378158 |
237 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760276202 CA6378156 |
238 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231375695 rs1013600381 |
239 | T>I | No |
ClinGen TOPMed |
|
|
CA383600100 rs1299305897 |
240 | F>L | No |
ClinGen gnomAD |
|
|
rs1361925636 CA383600119 |
240 | F>V | No |
ClinGen gnomAD |
|
|
CA6378155 rs774893889 |
241 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs562454555 CA6378154 |
242 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383600023 rs1165424741 |
243 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1018351912 CA231375661 CA383599999 CA383599996 |
244 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs779243667 CA6378152 |
244 | M>L | No |
ClinGen ExAC TOPMed |
|
|
rs1286749753 CA383600001 |
244 | M>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 245 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771340967 CA6378151 |
246 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6378149 rs778383976 |
247 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6378150 rs749771636 |
247 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs756606932 CA6378148 |
249 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383599913 rs752769976 |
250 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs752769976 CA6378147 |
250 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6378146 COSM1288048 rs781142259 |
251 | R>* | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755181982 CA6378145 |
251 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755181982 CA383599907 COSM3739615 |
251 | R>Q | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6378144 rs374794239 |
253 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6378143 rs140808969 |
254 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs753692670 CA383599866 |
256 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753692670 CA6378141 |
256 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6378139 rs760552965 CA6378140 |
257 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6378138 rs775007729 |
258 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1325127417 CA383599839 |
259 | A>D | No |
ClinGen gnomAD |
|
|
rs759173902 CA6378136 |
260 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1163014975 CA383599818 |
261 | G>R | No |
ClinGen gnomAD |
|
|
CA6378134 rs771254652 |
263 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs771254652 CA383599797 |
263 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383599796 rs1424408445 |
263 | Q>P | No |
ClinGen gnomAD |
|
|
rs1591836708 CA383599768 |
265 | Y>S | No |
ClinGen Ensembl |
|
|
CA6378132 rs144473866 |
266 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6378131 rs770274735 |
268 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs748604417 CA6378130 |
269 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA383599713 rs1468719904 |
270 | L>R | No |
ClinGen gnomAD |
|
|
rs142344531 CA6378129 |
271 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6378128 rs142344531 |
271 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6378125 rs758728968 |
272 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6378124 rs370784913 |
272 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA383599701 rs1213415196 |
273 | L>M | No |
ClinGen gnomAD |
|
|
CA383599699 rs1336901877 |
273 | L>P | No |
ClinGen gnomAD |
|
|
rs756015114 CA6378122 |
276 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763809753 CA6378123 |
276 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408487689 CA383597692 |
279 | W>* | No |
ClinGen gnomAD |
|
|
rs762659082 CA6378098 |
281 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6378097 rs772795576 |
282 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1360627 CA383597641 rs772795576 |
282 | A>T | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6378095 rs369619208 |
285 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA383597583 rs1210892665 |
285 | Q>K | No |
ClinGen gnomAD |
|
|
rs1591825807 CA383597576 |
285 | Q>P | No |
ClinGen Ensembl |
|
|
CA6378094 rs777167331 |
287 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6378091 rs373477459 |
291 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6378090 rs772113673 |
295 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6378089 rs145346123 |
296 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6378087 rs757526613 |
298 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6378086 rs747885802 |
299 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1299980806 CA383597327 |
302 | S>G | No |
ClinGen TOPMed |
|
|
rs1455324770 CA383597322 |
302 | S>N | No |
ClinGen gnomAD |
|
|
CA383597315 rs1345550579 |
303 | Y>H | No |
ClinGen gnomAD |
|
|
rs1158186607 CA383597302 |
304 | N>S | No |
ClinGen gnomAD |
|
|
CA383597269 rs1386109469 |
307 | H>Y | No |
ClinGen TOPMed |
|
|
rs954592586 CA231369316 |
310 | C>W | No |
ClinGen Ensembl |
|
|
rs780979529 CA6378083 |
310 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383597237 rs1332303557 |
311 | Y>C | No |
ClinGen TOPMed |
|
|
CA6378054 rs753614848 |
314 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383596876 rs1326399746 |
314 | C>R | No |
ClinGen gnomAD |
|
|
rs761172524 COSM938851 CA6378052 |
316 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA231368805 rs145751682 |
317 | L>F | No |
ClinGen ESP |
|
|
rs1462010794 CA383596829 |
318 | C>Y | No |
ClinGen gnomAD |
|
|
CA383596803 rs1591824139 |
320 | L>F | No |
ClinGen Ensembl |
|
|
rs746122946 COSM167900 CA6378050 |
321 | N>S | Variant assessed as Somatic; 9.244e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs536955832 CA383596771 |
323 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536955832 CA6378047 |
323 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383596757 rs1467425904 |
324 | T>I | No |
ClinGen gnomAD |
|
|
CA383596745 rs1252867381 |
325 | S>R | No |
ClinGen gnomAD |
|
|
CA6378045 rs773470953 |
326 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6378046 rs763147790 |
326 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs140655819 CA6378043 |
329 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779921619 CA383596692 |
332 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6378042 rs779921619 |
332 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751589338 CA231368787 |
336 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs778285366 CA6378039 |
337 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6378038 rs756888197 |
338 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs748929613 CA6378037 |
341 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6378035 rs755850609 |
342 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767925156 CA6378033 |
344 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA383596523 rs1591823965 |
345 | V>G | No |
ClinGen Ensembl |
|
|
rs755436663 CA6378032 |
345 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs766422946 CA6378030 |
347 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763059415 CA6378029 |
350 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA231368755 rs867989260 |
351 | A>V | No |
ClinGen Ensembl |
|
|
rs765397084 CA6378027 |
352 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs773313714 CA6378028 |
352 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383596445 rs773313714 |
352 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026168382 CA231367525 |
355 | P>L | No |
ClinGen TOPMed |
|
|
CA383595516 rs1446181233 |
355 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 356 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383595511 rs1187663658 |
356 | G>S | No |
ClinGen gnomAD |
|
|
CA383595499 rs1215163114 |
358 | A>T | No |
ClinGen gnomAD |
|
|
rs778954945 CA6377993 |
360 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs757848827 CA231367501 |
361 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6377991 rs753978131 |
362 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA383595469 rs753978131 |
362 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs143010356 CA6377990 |
363 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383595462 rs143010356 |
363 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383595459 rs1442103087 COSM2150534 |
364 | R>Q | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs149299701 CA6377986 |
364 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6377983 rs761345152 |
365 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377984 rs536589679 |
365 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1591821194 CA383595441 |
367 | V>G | No |
ClinGen Ensembl |
|
|
rs768299360 CA6377981 |
374 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6377980 rs746646286 |
375 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6377979 rs780393260 |
376 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383595383 rs1454562092 COSM938840 |
376 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA383595371 rs1218972116 |
378 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs369387866 CA6377977 |
379 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779439486 CA6377976 |
381 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1340753681 CA383595321 |
382 | M>I | No |
ClinGen gnomAD |
|
|
CA6377975 rs757738589 |
382 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383595305 rs777717835 |
384 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777717835 CA6377973 |
384 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553440976 CA231367438 |
385 | L>P | No |
ClinGen 1000Genomes |
|
|
CA6377971 rs753022537 |
386 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1370615771 CA383595246 |
390 | S>G | No |
ClinGen TOPMed |
|
|
rs1290200256 CA383595239 |
390 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs372614677 CA6377936 |
393 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148015114 CA6377935 |
394 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6377934 rs770455180 |
395 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377933 rs748282867 |
397 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748282867 CA231367219 |
397 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748282867 CA6377932 |
397 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283873618 CA383595087 |
399 | V>L | No |
ClinGen gnomAD |
|
|
rs747304701 CA6377930 |
400 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6377928 rs757051798 |
401 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41306938 CA6377926 |
402 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 402 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6377925 rs756070197 |
403 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6377924 rs752147298 |
405 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA6377922 rs759173725 |
406 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs367754019 CA6377923 |
406 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | Y>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774390146 CA6377921 |
407 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6377919 rs763187517 |
408 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA6377918 rs773646409 |
408 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs16928571 CA6377917 CA6377916 |
408 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199946754 CA6377914 |
409 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201579126 CA6377912 |
411 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772374178 CA6377911 |
411 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6377909 rs777560357 |
414 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs199634252 CA6377908 |
415 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6377906 rs145646067 COSM177922 RCV000969801 |
415 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6377907 rs199634252 |
415 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374420606 CA6377905 |
417 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs867210494 CA231367139 |
417 | E>K | No |
ClinGen Ensembl |
|
|
CA6377904 rs751110404 |
418 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs781134724 CA231367138 |
420 | I>T | No |
ClinGen Ensembl |
|
|
CA383594863 rs1319567343 |
421 | L>P | No |
ClinGen gnomAD |
|
|
rs765898226 CA6377903 |
421 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6377902 rs370762914 |
423 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 425 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6377899 rs577294 VAR_011594 |
426 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6377898 rs777328679 |
427 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs182480724 CA6377896 |
429 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383594741 rs1356273077 |
431 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs376131170 CA6377893 |
434 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772132119 CA6377894 |
434 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383594685 rs1565488124 |
435 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777527346 CA6377892 |
435 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6377890 rs748043857 |
436 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 437 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1028850879 CA231366562 |
438 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs147044076 COSM2206151 CA6377867 |
439 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779416804 CA6377866 |
439 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 440 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757976000 CA6377865 |
440 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA383593904 rs1256766242 |
440 | M>T | No |
ClinGen gnomAD |
|
|
CA6377862 COSM1739958 rs536953491 |
442 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA383593860 rs1228574621 |
443 | F>L | No |
ClinGen gnomAD |
|
|
CA231366517 rs924748299 |
446 | F>C | No |
ClinGen TOPMed |
|
|
rs140432857 CA231366505 |
449 | Y>H | No |
ClinGen ESP |
|
|
rs764528447 CA6377859 |
450 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756578408 COSM1266002 CA6377858 |
450 | A>V | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6377855 rs759618411 |
452 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA383593697 rs759618411 |
452 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA383593663 rs1386169171 |
453 | G>D | No |
ClinGen TOPMed |
|
|
CA383593671 rs1387545873 |
453 | G>S | No |
ClinGen gnomAD |
|
|
CA231366496 rs891460671 |
454 | M>I | No |
ClinGen TOPMed |
|
|
rs774433423 CA6377854 |
454 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6377853 rs766529624 |
456 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA383593579 rs142303290 |
458 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1181672800 CA383593590 |
458 | F>Y | No |
ClinGen Ensembl |
|
|
CA383593570 rs202217743 |
459 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6377849 rs202217743 |
459 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6377848 rs775539678 |
460 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383593532 rs775539678 |
460 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377844 rs369427960 |
463 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs1273350391 CA383593481 |
463 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6377845 rs369427960 |
463 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs1246668453 CA383593455 |
465 | L>F | No |
ClinGen TOPMed |
|
|
CA6377842 rs778582519 |
466 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA383593401 rs1265835615 |
468 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1269693402 CA383593351 |
470 | V>A | No |
ClinGen TOPMed |
|
|
rs1269693402 CA383593349 |
470 | V>G | No |
ClinGen TOPMed |
|
| TCGA novel | 472 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6377839 rs377179026 |
472 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383593184 rs1347444489 |
473 | A>G | No |
ClinGen TOPMed |
|
| TCGA novel | 473 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228188271 CA383593156 |
474 | K>N | No |
ClinGen gnomAD |
|
|
CA6377825 rs144389034 |
475 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383593154 rs144389034 |
475 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6377824 RCV000661968 rs139777154 |
475 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383593148 rs139777154 |
475 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383593144 rs1437390204 |
476 | F>L | No |
ClinGen gnomAD |
|
|
rs1330605882 CA383593098 |
477 | Y>C | No |
ClinGen gnomAD |
|
|
CA6377820 rs769352322 |
478 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377822 rs147388541 |
478 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM215524 CA6377821 rs147388541 |
478 | D>N | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6377819 rs369624972 |
480 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383593039 rs1169109330 |
480 | I>V | No |
ClinGen gnomAD |
|
|
CA6377817 COSM1360609 rs142374546 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 482 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478112892 CA383592984 |
483 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1184434791 CA383592948 |
485 | G>E | No |
ClinGen TOPMed |
|
|
CA6377814 rs76642468 |
486 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1472786302 CA383592908 |
487 | R>M | No |
ClinGen TOPMed |
|
|
CA6377812 rs758512839 |
488 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 489 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM415880 rs1439018595 CA383592874 |
490 | P>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6377810 rs540156724 |
491 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377811 rs540156724 |
491 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231366114 rs540156724 |
491 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956065628 CA231366101 |
495 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383592756 rs1220176209 |
495 | C>Y | No |
ClinGen gnomAD |
|
|
CA383592676 rs1273277746 |
499 | L>F | No |
ClinGen gnomAD |
|
|
CA383592680 rs1273277746 |
499 | L>I | No |
ClinGen gnomAD |
|
|
rs752471819 CA6377807 |
499 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs767490882 CA6377806 |
500 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383592607 rs1259830588 |
503 | V>A | No |
ClinGen gnomAD |
|
|
rs1308960128 CA383592612 |
503 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 504 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383592575 rs1409075754 |
505 | T>A | No |
ClinGen gnomAD |
|
|
CA383592254 rs1282282276 |
509 | L>P | No |
ClinGen gnomAD |
|
|
rs558631905 CA6377774 |
510 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464742838 CA383592134 |
513 | I>M | No |
ClinGen gnomAD |
|
|
rs1388990007 CA383592149 |
513 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6377771 rs779040240 |
516 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757335080 CA6377770 |
516 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs779040240 CA383592042 |
516 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778088247 COSM3780957 CA6377768 |
517 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6377769 rs749412374 |
517 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190970285 CA383591988 |
519 | T>N | No |
ClinGen gnomAD |
|
|
CA6377767 rs756415878 |
520 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383591944 rs1461302871 |
521 | N>S | No |
ClinGen TOPMed |
|
|
CA383591932 rs1247681387 |
522 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751330161 CA6377766 |
523 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1012964379 CA231365415 |
523 | K>N | No |
ClinGen TOPMed |
|
|
CA6377765 rs758341900 |
525 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377764 rs758341900 |
525 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220925870 CA383591803 |
526 | Y>* | No |
ClinGen gnomAD |
|
|
CA6377762 rs752824610 |
527 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287618714 CA383591740 |
528 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150746149 CA6377759 |
528 | W>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs776142147 CA6377758 |
529 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1017658805 CA231365400 |
529 | W>R | No |
ClinGen Ensembl |
|
|
CA6377757 rs763680620 |
530 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6377755 rs775829627 |
532 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs772380932 CA6377754 |
532 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1293674194 CA383591646 |
533 | L>P | No |
ClinGen gnomAD |
|
|
CA383591644 rs1293674194 |
533 | L>R | No |
ClinGen gnomAD |
|
|
CA6377753 rs746367230 |
534 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA383591637 rs1456957110 |
534 | G>S | No |
ClinGen gnomAD |
|
|
rs1170993650 CA383591610 |
536 | L>F | No |
ClinGen gnomAD |
|
|
rs201412499 CA383591579 |
539 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201412499 CA6377752 |
539 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA231365365 rs968046515 |
541 | S>F | No |
ClinGen Ensembl |
|
|
rs771486979 CA6377751 |
542 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs367557934 CA383591512 |
542 | M>K | No |
ClinGen ESP gnomAD |
|
|
rs367557934 CA231365339 |
542 | M>T | No |
ClinGen ESP gnomAD |
|
|
CA231365360 rs1021306294 |
542 | M>V | No |
ClinGen gnomAD |
|
|
CA6377750 rs749318869 |
543 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs866691925 CA231365322 |
544 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA383591478 rs866691925 |
544 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA6377749 rs374806170 |
545 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1324380935 CA383591460 |
545 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 546 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6377748 rs770134127 |
548 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1207152839 CA383590369 |
551 | Y>C | No |
ClinGen gnomAD |
|
|
rs1225893858 CA383590335 |
553 | L>I | No |
ClinGen gnomAD |
|
|
rs765381838 CA231365308 |
554 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1034808453 CA231365307 |
555 | T>S | No |
ClinGen Ensembl |
|
|
CA6377744 rs750263097 |
556 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA6377743 rs778667388 |
556 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1310408845 CA383590257 |
557 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6377742 rs759477701 |
558 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA383590253 rs759477701 |
558 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6377741 rs753279678 |
559 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383590192 rs1378472980 |
562 | E>K | No |
ClinGen gnomAD |
|
|
rs751862161 CA6377713 |
563 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558920421 CA6377712 |
564 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537041083 COSM177919 CA6377711 |
565 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs141229734 CA6377710 |
565 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed |
|
rs1156753515 CA383589964 |
566 | Q>R | No |
ClinGen gnomAD |
|
|
rs776786828 CA6377706 |
568 | M>I | No |
ClinGen ExAC TOPMed |
|
|
rs543786661 CA383589927 |
568 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA6377707 rs543786661 |
568 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 570 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745307936 CA6377704 |
571 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148218042 CA6377702 |
572 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs370426652 CA6377701 |
573 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6377699 rs756053882 |
575 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA231364907 rs1016690798 |
576 | Q>* | No |
ClinGen Ensembl |
|
|
CA6377697 rs61741313 |
577 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6377698 rs146023208 |
577 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754571234 CA6377696 |
578 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377694 rs766632341 |
581 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6377695 rs751271912 COSM938835 |
581 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6377691 rs201412174 |
582 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6377692 rs201412174 |
582 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138219672 CA6377688 |
583 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6377687 rs138219672 |
583 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1391723763 CA383589686 |
584 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772299588 CA6377685 |
585 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA6377683 rs61738753 |
586 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219017749 CA383589648 |
587 | T>I | No |
ClinGen TOPMed |
|
|
rs1591815926 CA383589657 |
587 | T>P | No |
ClinGen Ensembl |
|
|
CA383589640 rs1451644014 |
588 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs532774711 CA6377679 |
594 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1228114908 CA383589608 |
594 | R>K | No |
ClinGen gnomAD |
|
|
rs746523736 CA6377678 |
595 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA383589603 rs746523736 |
595 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383589584 rs1330548377 |
598 | L>I | No |
ClinGen gnomAD |
|
|
CA383589566 rs1402953102 |
600 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 600 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383589548 rs1372326421 |
603 | C>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA383589542 rs1308472704 |
603 | C>Y | No |
ClinGen gnomAD |
No associated diseases with Q9NSD5
No regional properties for Q9NSD5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NSD5 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| 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. |
| presynapse | The part of a synapse that is part of the presynaptic cell. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| amino acid transmembrane transporter activity | Enables the transfer of amino acids from one side of a membrane to the other. Amino acids are organic molecules that contain an amino group and a carboxyl group. |
| amino 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: amino acid(out) + Na+(out) = amino acid(in) + Na+(in). |
| creatine transmembrane transporter activity | Enables the transfer of creatine from one side of a membrane to the other. Creatine is a compound synthesized from the amino acids arginine, glycine, and methionine that occurs in muscle. |
| gamma-aminobutyric acid transmembrane transporter activity | Enables the transfer of gamma-aminobutyric acid from one side of a membrane to the other. Gamma-aminobutyric acid is 4-aminobutyrate (GABA). |
| 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. |
| taurine transmembrane transporter activity | Enables the transfer of taurine from one side of a membrane to the other. Taurine (2-aminoethanesulfonic acid) is a sulphur-containing amino acid derivative which is important in the metabolism of fats. |
| 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). |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid import across plasma membrane | The directed movement of an amino acid from outside of a cell, across the plasma membrane and into the cytosol. |
| creatine transmembrane transport | The directed movement of creatine across a membrane. |
| gamma-aminobutyric acid import | The directed movement of gamma-aminobutyric acid (GABA, 4-aminobutyrate) into a cell or organelle. |
| 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. |
| 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. |
| positive regulation of necrotic cell death | Any process that increases the rate, frequency or extent of necrotic cell death. Necrotic cell death is a cell death process that is morphologically characterized by a gain in cell volume (oncosis), swelling of organelles, plasma membrane rupture and subsequent loss of intracellular contents. |
| 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. |
| taurine transport | The directed movement of taurine into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
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 |
| 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 |
| 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 |
| P31650 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | 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 |
| P31647 | Slc6a11 | Sodium- and chloride-dependent GABA transporter 3 | Rattus norvegicus (Rat) | 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 |
| 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 |
| MDSRVSGTTS | NGETKPVYPV | MEKKEEDGTL | ERGHWNNKME | FVLSVAGEII | GLGNVWRFPY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LCYKNGGGAF | FIPYLVFLFT | CGIPVFLLET | ALGQYTSQGG | VTAWRKICPI | FEGIGYASQM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IVILLNVYYI | IVLAWALFYL | FSSFTIDLPW | GGCYHEWNTE | HCMEFQKTNG | SLNGTSENAT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SPVIEFWERR | VLKISDGIQH | LGALRWELAL | CLLLAWVICY | FCIWKGVKST | GKVVYFTATF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PYLMLVVLLI | RGVTLPGAAQ | GIQFYLYPNL | TRLWDPQVWM | DAGTQIFFSF | AICLGCLTAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSYNKYHNNC | YRDCIALCFL | NSGTSFVAGF | AIFSILGFMS | QEQGVPISEV | AESGPGLAFI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AYPRAVVMLP | FSPLWACCFF | FMVVLLGLDS | QFVCVESLVT | ALVDMYPHVF | RKKNRREVLI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LGVSVVSFLV | GLIMLTEGGM | YVFQLFDYYA | ASGMCLLFVA | IFESLCVAWV | YGAKRFYDNI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EDMIGYRPWP | LIKYCWLFLT | PAVCTATFLF | SLIKYTPLTY | NKKYTYPWWG | DALGWLLALS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SMVCIPAWSL | YRLGTLKGPF | RERIRQLMCP | AEDLPQRNPA | GPSAPATPRT | SLLRLTELES |
| HC |