Q9H2J7
PR
Gene name |
SLC6A15 |
Protein name |
Sodium-dependent neutral amino acid transporter B(0)AT2 |
Names |
Sodium- and chloride-dependent neurotransmitter transporter NTT73, Sodium-coupled branched-chain amino-acid transporter 1, Solute carrier family 6 member 15, Transporter v7-3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55117 |
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 Q9H2J7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H2J7-F1 | Predicted | AlphaFoldDB |
506 variants for Q9H2J7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs750214089 CA6707703 |
3 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs756321276 CA6707702 |
5 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707701 rs756321276 |
5 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035568617 CA240376467 |
7 | V>G | No |
ClinGen Ensembl |
|
|
rs1357815968 CA386103092 |
11 | E>* | No |
ClinGen gnomAD |
|
|
rs554324708 CA6707698 |
11 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386103075 rs1447618789 |
12 | L>S | No |
ClinGen gnomAD |
|
|
rs767525034 CA6707697 |
13 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1330988332 CA386103047 |
14 | D>Y | No |
ClinGen gnomAD |
|
|
rs1451536489 CA386103027 |
15 | D>E | No |
ClinGen gnomAD |
|
|
rs1399448465 CA386103031 |
15 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759631659 CA6707696 |
15 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751968447 CA6707695 |
16 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 18 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA240376464 rs984994742 |
18 | E>A | No |
ClinGen Ensembl |
|
|
rs984994742 CA240376463 |
18 | E>V | No |
ClinGen Ensembl |
|
|
rs1481196929 CA386102984 |
19 | S>A | No |
ClinGen TOPMed |
|
|
CA6707693 rs1555182162 |
21 | K>R | No |
ClinGen Ensembl |
|
|
CA240376462 rs896465018 |
25 | S>A | No |
ClinGen TOPMed |
|
|
CA386102895 rs766876266 |
26 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA240376461 rs757020679 |
26 | N>S | No |
ClinGen Ensembl |
|
|
rs202085887 CA6707691 |
28 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1147142 rs1470317265 COSM695607 CA386102875 |
29 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1364580 rs776447756 CA6707687 COSM1364579 |
32 | D>G | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6707688 rs150047699 |
32 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386102834 rs150047699 |
32 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs186951156 CA6707685 |
33 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6707684 rs774914324 |
33 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6707683 rs772036971 |
36 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6707682 rs745863803 |
37 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs778698847 CA6707681 |
37 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946841186 CA240376460 |
40 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6707680 rs757055002 |
41 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1326460624 CA386102702 |
42 | D>H | No |
ClinGen gnomAD |
|
|
CA386102696 rs1462974748 |
42 | D>V | No |
ClinGen gnomAD |
|
|
rs1592608103 CA386102682 |
43 | G>A | No |
ClinGen Ensembl |
|
|
CA386102664 rs1365496475 |
44 | Q>H | No |
ClinGen TOPMed |
|
|
CA6707677 rs755232053 |
47 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs139354471 CA6707676 |
49 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758874317 CA6707674 |
53 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386102534 rs1253121983 |
54 | G>E | No |
ClinGen gnomAD |
|
|
CA6707671 rs550500645 |
58 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777179271 CA240376457 |
61 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6707669 rs763818768 |
63 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA386102242 rs1286579595 |
66 | S>I | No |
ClinGen gnomAD |
|
|
CA6707666 rs771484155 |
68 | L>R | No |
ClinGen ExAC TOPMed |
|
|
rs1592608036 CA386102192 |
69 | Q>P | No |
ClinGen Ensembl |
|
|
rs150860765 CA240376455 |
75 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1431170883 CA386102108 |
75 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188821225 CA386101025 |
81 | L>* | No |
ClinGen TOPMed |
|
|
CA386101015 rs1156448465 |
82 | G>V | No |
ClinGen gnomAD |
|
|
CA386101001 rs1387456357 |
84 | V>G | No |
ClinGen TOPMed |
|
|
rs1174977963 CA386100994 |
85 | W>* | No |
ClinGen gnomAD |
|
|
CA386100996 rs1163162995 |
85 | W>* | No |
ClinGen gnomAD |
|
|
rs1425540176 CA386100990 |
86 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 90 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386100963 rs1348232316 |
90 | L>V | No |
ClinGen TOPMed |
|
|
CA386100956 rs1191170777 |
91 | C>Y | No |
ClinGen gnomAD |
|
|
rs199930176 CA6707660 |
92 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA240376454 rs972418657 |
94 | N>S | No |
ClinGen TOPMed gnomAD |
|
| rs542726260 | 96 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707640 rs770831660 |
99 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1586780 CA6707639 rs143012212 COSM944004 |
100 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA385968068 rs1327435161 |
101 | L>S | No |
ClinGen gnomAD |
|
|
CA6707638 rs772986380 |
102 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA240166524 rs143672853 |
103 | Y>* | No |
ClinGen ESP TOPMed |
|
|
rs1276298463 CA385968028 |
104 | L>S | No |
ClinGen gnomAD |
|
|
CA385968017 rs1355902740 |
105 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 106 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773813269 CA6707636 |
109 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772380561 CA6707634 |
114 | L>P | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385967866 rs1462884983 |
116 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1243760051 CA385967855 |
117 | L>F | No |
ClinGen TOPMed |
|
|
CA240166460 rs999799200 |
118 | E>D | No |
ClinGen Ensembl |
|
|
rs745923937 CA385967798 |
122 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA6707633 rs745923937 |
122 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779195717 CA6707632 |
126 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1677228 rs910909379 CA240166443 COSM1677227 |
126 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1592604231 CA385967708 |
127 | R>* | No |
ClinGen Ensembl |
|
|
COSM944002 COSM1586782 CA6707631 rs757838229 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1190271369 CA385967696 |
128 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754406059 CA6707630 |
129 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955174854 CA240166416 |
130 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 131 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA240166405 rs1041433607 |
132 | V>L | No |
ClinGen Ensembl |
|
|
rs375853172 CA6707629 |
134 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756453892 CA6707628 |
136 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770024937 CA240166371 |
137 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385967567 rs1422204948 |
138 | P>R | No |
ClinGen TOPMed |
|
|
rs1197977117 CA385967544 |
140 | L>P | No |
ClinGen gnomAD |
|
|
rs751054637 CA6707624 |
142 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759281023 CA6707625 |
142 | G>R | Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6707623 rs765939954 |
146 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866768953 CA240166021 |
152 | Y>C | No |
ClinGen gnomAD |
|
|
CA240166016 rs1035073424 |
153 | F>S | No |
ClinGen TOPMed |
|
|
CA6707605 rs536374921 |
160 | V>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs749977299 CA6707604 |
162 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707603 rs765064862 |
163 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707602 rs761870441 |
164 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6707601 rs201563753 |
165 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6707600 rs763957456 |
165 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs759778372 CA6707599 |
168 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA385966382 rs1158126951 |
170 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs774732638 CA6707598 |
170 | S>F | No |
ClinGen ExAC |
|
|
CA385966372 rs1454815811 |
171 | Q>E | No |
ClinGen gnomAD |
|
|
rs1254800156 CA385966363 |
171 | Q>L | No |
ClinGen gnomAD |
|
|
rs1254800156 CA385966365 |
171 | Q>R | No |
ClinGen gnomAD |
|
|
rs1450781928 CA385966340 |
173 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773386994 CA6707595 |
175 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234370571 CA385966250 |
177 | L>P | No |
ClinGen gnomAD |
|
|
CA385966213 rs1270414460 |
179 | W>* | No |
ClinGen TOPMed |
|
|
rs140062203 CA6707592 |
181 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385966180 rs1212315274 |
181 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385966118 rs1231743159 |
185 | V>L | No |
ClinGen gnomAD |
|
|
CA385966108 rs1349316407 |
186 | K>* | No |
ClinGen gnomAD |
|
|
CA240165897 rs1013978495 |
188 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 189 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385966017 rs1267361511 |
191 | T>A | No |
ClinGen TOPMed |
|
|
rs1449103775 CA385966009 |
191 | T>S | No |
ClinGen TOPMed |
|
|
CA6707568 rs778232072 |
193 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1592602979 CA385965808 |
194 | E>V | No |
ClinGen Ensembl |
|
|
rs1186216598 CA385965788 |
195 | P>L | No |
ClinGen gnomAD |
|
|
rs1437964846 CA385965719 |
199 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA240164837 rs773590209 |
203 | T>S | No |
ClinGen Ensembl |
|
|
CA240164805 rs996395442 |
207 | W>* | No |
ClinGen Ensembl |
|
|
rs1316396343 CA385965514 |
208 | Y>C | No |
ClinGen gnomAD |
|
|
CA6707564 rs777819022 |
210 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1381615330 CA385965480 |
211 | A>T | No |
ClinGen gnomAD |
|
|
CA240164787 rs904495769 |
212 | L>R | No |
ClinGen Ensembl |
|
|
CA385965440 rs1447365264 |
214 | I>S | No |
ClinGen gnomAD |
|
|
rs1043078524 CA240164754 |
216 | S>N | No |
ClinGen Ensembl |
|
|
rs1242258131 CA385965378 |
218 | I>V | No |
ClinGen TOPMed |
|
|
CA6707562 rs574241808 |
221 | S>R | No |
ClinGen 1000Genomes ExAC |
|
|
CA240164742 rs944165196 |
223 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707560 rs200478124 |
227 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333236226 CA385965186 |
227 | K>R | No |
ClinGen gnomAD |
|
|
CA6707559 rs750672316 |
229 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183021739 CA385965042 |
234 | A>T | No |
ClinGen TOPMed |
|
|
CA6707557 rs761921536 |
237 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs761921536 CA385964966 |
237 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385964942 rs1413619380 |
238 | M>V | No |
ClinGen TOPMed |
|
|
CA385964911 rs1470170950 |
239 | V>I | No |
ClinGen gnomAD |
|
|
rs769136889 CA6707555 |
240 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs761236092 CA6707554 |
241 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs775762149 CA6707553 |
244 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707552 rs146065527 |
247 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6707551 rs745458134 |
248 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385964570 rs1323933055 |
252 | K>N | No |
ClinGen gnomAD |
|
|
CA6707502 rs758147261 |
253 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385963623 rs1319672993 |
255 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA385963621 rs1319672993 |
255 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 258 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385963548 rs1255940615 |
259 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 264 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385963499 rs1314505883 |
264 | V>I | No |
ClinGen gnomAD |
|
|
rs752764303 CA6707499 |
265 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs752764303 CA6707498 |
265 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM695608 CA6707497 rs767563354 |
266 | I>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448196387 CA385963427 |
269 | L>F | No |
ClinGen gnomAD |
|
|
CA385963403 rs1168977891 |
271 | R>G | No |
ClinGen gnomAD |
|
|
CA385963389 rs149758503 |
272 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs149758503 CA6707495 |
272 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA240158362 rs1011744921 |
273 | F>L | No |
ClinGen Ensembl |
|
|
CA385963379 rs1326914414 |
273 | F>S | No |
ClinGen TOPMed |
|
|
CA385963339 rs1167219816 |
276 | N>S | No |
ClinGen gnomAD |
|
|
rs1369246425 CA385963342 |
276 | N>Y | No |
ClinGen gnomAD |
|
|
rs766718718 CA6707494 |
279 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1476974 rs1236357271 CA385963257 |
283 | R>C | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs139565834 COSM197321 CA6707493 |
283 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385963241 rs1252096776 |
284 | H>L | No |
ClinGen TOPMed |
|
|
CA385963250 rs1300078660 |
284 | H>N | No |
ClinGen gnomAD |
|
|
CA6707491 rs773751785 |
286 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385963194 rs1309369997 |
287 | T>N | No |
ClinGen gnomAD |
|
|
CA385962932 rs1358739437 |
291 | E>D | No |
ClinGen gnomAD |
|
|
rs1421560115 CA385962938 |
291 | E>K | No |
ClinGen gnomAD |
|
|
rs779796842 CA240155715 |
293 | M>L | No |
ClinGen gnomAD |
|
|
CA385962912 rs1293041976 |
294 | L>P | No |
ClinGen TOPMed |
|
|
rs1379086444 CA385962907 |
295 | E>A | No |
ClinGen gnomAD |
|
|
CA385962902 rs1196465389 |
296 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1592596204 CA385962892 |
297 | K>R | No |
ClinGen Ensembl |
|
|
rs1263416284 CA385962858 |
302 | A>T | No |
ClinGen gnomAD |
|
|
CA6707470 rs750812521 |
304 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1218375417 CA385962844 |
304 | T>S | No |
ClinGen gnomAD |
|
|
rs765700795 CA6707469 |
306 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1284699921 CA385962833 |
306 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962768 rs1170065171 |
316 | G>S | No |
ClinGen gnomAD |
|
|
rs1346318625 CA385962754 |
318 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA385962756 rs1346318625 |
318 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA385962755 rs1346318625 COSM943998 |
318 | I>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM371290 CA385962709 rs1231502438 |
324 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 325 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345322766 CA385962679 |
328 | N>I | No |
ClinGen gnomAD |
|
|
CA6707467 rs76772773 |
329 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA6707465 rs763616886 |
331 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 335 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962621 rs1404239465 |
336 | L>P | No |
ClinGen gnomAD |
|
|
rs984897112 CA240155577 |
337 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 341 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962577 rs1178585374 |
343 | F>I | No |
ClinGen TOPMed |
|
|
rs1424095875 CA385962566 |
344 | T>N | No |
ClinGen gnomAD |
|
|
rs1187628413 CA385962553 |
346 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 346 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962556 rs1241223268 |
346 | V>I | No |
ClinGen gnomAD |
|
|
CA385962550 rs1397487077 |
347 | L>V | No |
ClinGen TOPMed |
|
|
CA6707459 rs371878747 |
349 | T>A | No |
ClinGen ESP ExAC |
|
|
CA385962530 rs1357808397 |
350 | L>F | No |
ClinGen TOPMed |
|
|
CA6707458 rs146931396 |
350 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61734360 CA6707456 |
354 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1323215772 CA385962489 |
357 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA385962488 rs1323215772 |
357 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6707454 rs141120120 |
358 | F>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1316290501 CA385962472 |
360 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA385962452 rs1238570222 |
363 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA385962441 rs1348632278 |
364 | N>S | No |
ClinGen TOPMed |
|
|
rs752977840 CA6707452 |
364 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 365 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780346815 CA6707450 |
366 | K>R | No |
ClinGen ExAC |
|
|
CA6707448 rs374482041 |
368 | I>V | No |
ClinGen ESP ExAC |
|
|
CA6707447 rs779369763 COSM3955253 |
370 | Q>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA6707424 rs755659787 |
372 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA240155199 rs1010244538 |
373 | E>* | No |
ClinGen Ensembl |
|
|
CA385962362 rs1263014819 |
374 | T>A | No |
ClinGen TOPMed |
|
|
rs143811197 CA6707423 |
374 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221810601 CA385962356 |
375 | I>N | No |
ClinGen gnomAD |
|
|
CA240155176 rs966334182 |
375 | I>V | No |
ClinGen TOPMed |
|
|
rs751111857 CA6707420 |
377 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763006733 CA6707418 |
378 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1002198864 CA240155162 |
379 | L>* | No |
ClinGen Ensembl |
|
|
rs772815858 CA6707417 |
381 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs760758362 CA6707415 |
383 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA6707414 rs775885872 |
384 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774626493 CA6707411 |
385 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6707412 rs774626493 |
385 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6707410 rs771334885 |
386 | Q>* | No |
ClinGen ExAC |
|
|
rs749809806 CA385962271 |
387 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs749809806 CA6707409 |
387 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6707408 rs777945667 |
388 | I>V | No |
ClinGen ExAC |
|
|
CA6707407 rs756526786 |
389 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA240155094 rs1049142862 |
389 | I>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 389 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962249 rs1407975147 |
391 | H>Y | No |
ClinGen gnomAD |
|
|
CA240155090 rs989109819 |
392 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs747762971 CA6707406 |
392 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592595778 CA385962236 |
393 | I>V | No |
ClinGen Ensembl |
|
|
CA6707405 rs780793645 |
395 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 396 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754676885 CA6707404 |
397 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs148988382 CA6707402 |
397 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6707403 rs148988382 |
397 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243635853 CA385962197 |
399 | T>I | No |
ClinGen TOPMed |
|
|
CA385962200 rs1288272007 |
399 | T>S | No |
ClinGen gnomAD |
|
|
CA240155057 rs12424429 |
400 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6707401 VAR_052065 rs12424429 |
400 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 401 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962180 rs1240236670 |
402 | D>G | No |
ClinGen TOPMed |
|
|
CA385962182 rs1279316785 |
402 | D>Y | No |
ClinGen gnomAD |
|
|
CA385962155 rs1365265650 |
405 | L>F | No |
ClinGen gnomAD |
|
|
CA6707399 rs375417324 |
405 | L>S | No |
ClinGen ESP ExAC |
|
|
rs1400240350 CA385962150 |
406 | V>A | No |
ClinGen gnomAD |
|
|
CA385962154 rs1282191787 |
406 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385962138 rs1289875776 |
408 | D>Y | No |
ClinGen gnomAD |
|
|
CA385962127 rs1213516627 |
409 | I>T | No |
ClinGen TOPMed |
|
|
rs761637215 CA6707398 |
411 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 411 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592595718 CA385962115 |
411 | Q>L | No |
ClinGen Ensembl |
|
|
rs1452497994 CA385962110 |
412 | K>E | No |
ClinGen gnomAD |
|
|
CA6707397 rs776613455 |
412 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385962104 rs767834823 |
413 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707396 rs767834823 |
413 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365687664 CA385962083 |
416 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA385962075 rs1416485046 |
417 | E>K | No |
ClinGen gnomAD |
|
|
rs911838841 CA240154991 |
419 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6707393 rs759900549 |
420 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049050018 CA240154989 |
421 | L>R | No |
ClinGen TOPMed |
|
|
rs774509852 CA6707392 |
422 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA240154988 rs1050087772 |
427 | K>E | No |
ClinGen Ensembl |
|
|
rs551976974 CA240154982 COSM1226518 |
428 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs763322968 CA6707390 |
433 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs776914896 CA6707368 |
435 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385961290 rs1381210458 |
435 | A>V | No |
ClinGen gnomAD |
|
|
CA385961281 rs1447943777 |
436 | V>A | No |
ClinGen gnomAD |
|
|
rs1447943777 CA385961279 |
436 | V>G | No |
ClinGen gnomAD |
|
|
rs1468353738 CA385961284 |
436 | V>I | No |
ClinGen TOPMed |
|
|
CA6707366 rs746624989 |
437 | Q>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385961242 rs1461675721 |
440 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6707364 rs771670318 |
441 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1442904478 CA385961212 |
442 | A>G | No |
ClinGen gnomAD |
|
|
COSM943995 CA6707363 rs745367999 |
442 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1565721355 CA385961173 |
445 | A>V | No |
ClinGen Ensembl |
|
|
rs753843235 CA6707360 |
447 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6707359 rs777665756 |
447 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA6707358 rs752479120 |
448 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA6707357 rs752479120 |
448 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 449 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707356 rs766602334 |
449 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA240153218 rs866132591 |
450 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1266901831 CA385961109 |
451 | T>A | No |
ClinGen gnomAD |
|
|
CA240153209 rs906920909 |
452 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1358160265 CA385961096 |
452 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 453 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707352 rs575840406 |
453 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA385961068 rs1305302937 |
454 | P>R | No |
ClinGen gnomAD |
|
|
CA6707351 rs777151945 |
454 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA240153169 rs146564303 |
455 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6707350 rs764625670 |
456 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs775772946 CA6707348 |
460 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs771746710 CA6707347 |
464 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs773850766 CA6707345 |
466 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA240153103 rs997755449 |
469 | N>S | No |
ClinGen Ensembl |
|
|
CA240153075 rs369730983 |
478 | T>I | No |
ClinGen Ensembl |
|
|
CA385960823 rs1490026621 |
480 | E>Q | No |
ClinGen gnomAD |
|
|
rs1286111982 CA385960813 |
481 | G>E | No |
ClinGen gnomAD |
|
|
rs770482555 CA240153064 |
483 | V>I | No |
ClinGen Ensembl |
|
|
rs199711818 CA6707337 |
484 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6707338 rs758581950 |
484 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425164588 CA385960783 |
486 | I>M | No |
ClinGen TOPMed |
|
|
CA385960785 rs1332071033 |
486 | I>T | No |
ClinGen gnomAD |
|
|
rs1053616416 CA240153032 |
486 | I>V | No |
ClinGen Ensembl |
|
|
rs753966954 CA6707335 |
488 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6707333 rs764570525 |
489 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707332 rs761149306 |
491 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA6707330 rs767784176 |
492 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs374733661 CA6707331 |
492 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA240153004 rs759319266 |
494 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759182477 CA6707329 |
495 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA6707328 rs150804704 |
495 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431192414 CA385960725 |
496 | I>V | No |
ClinGen gnomAD |
|
|
rs201461650 CA6707305 |
500 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475235254 CA385960568 |
501 | C>S | No |
ClinGen TOPMed |
|
|
rs752023128 CA6707304 |
502 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA385960544 rs1367900010 |
503 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1367900010 CA385960548 |
503 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6707303 rs766120362 |
504 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA385960521 rs1269666693 |
505 | A>V | No |
ClinGen gnomAD |
|
|
rs762762083 CA6707302 |
506 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6707301 rs570707879 |
508 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1459220479 CA385960460 |
510 | L>V | No |
ClinGen TOPMed |
|
|
CA6707300 rs769203246 |
511 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707298 rs370155777 |
515 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385960397 rs1330401543 |
515 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 517 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779889906 CA6707295 |
522 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs771070971 CA6707294 |
523 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA385960330 rs1387601477 |
523 | M>V | No |
ClinGen gnomAD |
|
|
CA240150340 rs990452453 |
524 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 525 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1042456869 CA240150339 |
527 | Y>F | No |
ClinGen Ensembl |
|
|
CA6707293 rs749521920 |
530 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA240150336 rs1009324775 |
531 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 532 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565719963 CA385960250 |
535 | I>M | No |
ClinGen Ensembl |
|
|
CA385960252 rs1206812259 |
535 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1436276355 CA385960235 |
538 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 539 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376236592 CA385960227 |
539 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 540 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707292 rs777778889 |
541 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752864129 CA6707290 |
542 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385960202 rs781533437 |
543 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs781533437 CA6707289 |
543 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755569907 CA6707288 |
543 | A>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 545 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1281070764 CA385960188 |
545 | C>Y | No |
ClinGen gnomAD |
|
|
rs751969540 CA6707287 |
549 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6707286 rs148681042 |
550 | I>T | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1400129659 CA385959938 |
552 | K>N | No |
ClinGen gnomAD |
|
|
rs758867504 CA6707267 |
554 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs750865508 CA6707266 |
555 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 557 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385959861 rs1407726927 |
558 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1024591138 CA240147637 |
559 | D>Y | No |
ClinGen Ensembl |
|
|
rs143580052 CA240147632 |
560 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA385959836 rs1324999162 |
560 | M>V | No |
ClinGen TOPMed |
|
|
CA385959807 rs1267111681 |
562 | G>D | No |
ClinGen gnomAD |
|
|
COSM267919 rs1320673855 CA385959812 |
562 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1198765043 CA385959788 |
564 | A>S | No |
ClinGen gnomAD |
|
|
CA240147607 rs894437459 |
567 | R>I | No |
ClinGen Ensembl |
|
|
rs1005231522 CA385959747 |
569 | Y>D | No |
ClinGen gnomAD |
|
|
rs1005231522 CA240147595 |
569 | Y>H | No |
ClinGen gnomAD |
|
|
rs1342861741 CA385959729 |
571 | Y>C | No |
ClinGen TOPMed |
|
|
rs1219651162 CA385959719 CA385959718 |
572 | M>I | No |
ClinGen TOPMed |
|
|
CA6707262 rs763670149 |
575 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 581 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385959642 rs1363481463 |
583 | S>T | No |
ClinGen gnomAD |
|
|
CA240147563 rs1044046157 |
587 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs767480131 CA6707259 |
588 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs138060449 CA6707258 |
591 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6707257 rs774264220 |
592 | M>I | No |
ClinGen ExAC |
|
|
CA385959514 rs1176019562 |
594 | L>I | No |
ClinGen gnomAD |
|
|
CA6707256 rs769907639 |
596 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776516278 CA6707254 |
598 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1243738958 CA385959453 |
599 | Y>C | No |
ClinGen gnomAD |
|
|
rs78734475 CA6707252 |
600 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM256102 rs376347410 CA240147477 |
601 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
| TCGA novel | 602 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6707250 rs3782369 VAR_052066 |
603 | I>M | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA385959401 rs1262065481 |
603 | I>N | No |
ClinGen gnomAD |
|
|
CA6707248 CA6707249 rs746213024 |
605 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs989031840 CA240147475 |
605 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA385959381 rs989031840 |
605 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs777378950 CA6707227 |
607 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 613 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA385959079 rs1165319465 |
620 | V>F | No |
ClinGen gnomAD |
|
|
rs1422663720 CA385959075 |
621 | V>I | No |
ClinGen gnomAD |
|
|
rs1384594580 CA385959066 |
622 | C>Y | No |
ClinGen gnomAD |
|
|
CA6707224 rs780689417 |
623 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1420698806 CA385959052 |
624 | S>F | No |
ClinGen gnomAD |
|
|
CA385959045 rs1362292528 |
626 | V>I | No |
ClinGen TOPMed |
|
|
rs1247932203 CA385959033 |
628 | F>I | No |
ClinGen gnomAD |
|
|
rs754852700 CA6707223 |
630 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268717016 CA385959011 |
631 | L>F | No |
ClinGen TOPMed |
|
|
rs762779676 CA6707220 |
634 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760982133 CA6707217 |
635 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1357911610 CA385958988 COSM1606703 |
635 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA385958979 rs1319126140 |
637 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs375002170 CA6707216 |
638 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6707215 rs772296811 |
640 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759917281 CA6707214 |
640 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772296811 CA385958959 |
640 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs376591011 CA6707211 |
641 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA385958953 rs778180371 |
641 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707210 rs778180371 |
641 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6707212 rs376591011 |
641 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 642 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456247282 CA385958940 COSM943994 |
643 | N>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6707207 rs780632349 |
644 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA240146269 rs577162076 |
645 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751072103 CA6707205 |
646 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754549579 CA6707206 |
646 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385958894 rs1206250639 |
650 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1259326281 CA385958863 |
654 | S>Y | No |
ClinGen gnomAD |
|
|
CA6707201 rs765137171 |
655 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA385958834 rs1291720306 |
658 | K>R | No |
ClinGen TOPMed |
|
|
rs914852072 CA240146251 |
660 | G>V | No |
ClinGen TOPMed |
|
|
CA385958815 rs1324509653 |
661 | R>K | No |
ClinGen gnomAD |
|
|
rs1285472331 CA385958810 |
662 | V>I | No |
ClinGen gnomAD |
|
|
rs760930686 CA6707200 |
663 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707198 rs767888108 |
664 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1218427846 CA385958793 |
665 | E>K | No |
ClinGen TOPMed |
|
|
CA6707197 rs759636605 |
666 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150080808 CA6707195 |
670 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385958757 rs1485696699 |
670 | E>Q | No |
ClinGen TOPMed |
|
|
rs773511911 CA6707193 |
671 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707191 rs747759251 |
672 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1173837286 CA385958745 |
672 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA385958736 rs1194778156 |
673 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA240146204 rs976198490 |
677 | I>L | No |
ClinGen TOPMed |
|
|
rs746522457 CA6707188 |
677 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs779432944 CA6707187 |
678 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6707185 rs528847039 |
682 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA385958675 COSM468982 rs528847039 |
682 | P>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs151316112 CA6707182 |
683 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6707180 rs145111717 |
684 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1165804 CA240146189 rs1006033978 |
684 | E>K | Variant assessed as Somatic; 9.24e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 685 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375532113 CA6707179 |
685 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6707177 rs141349631 |
687 | S>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1023541016 CA240146123 |
688 | P>L | No |
ClinGen TOPMed |
|
|
CA385958640 rs1225956572 |
688 | P>S | No |
ClinGen TOPMed |
|
|
CA6707176 rs759726355 |
691 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6707174 rs762144413 |
694 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6707175 rs762144413 |
694 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6707173 rs146589974 COSM943992 |
696 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768286786 CA6707172 |
696 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA385958576 rs1474163176 |
698 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6707171 rs746654150 |
701 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1265291686 CA385958538 |
703 | T>I | No |
ClinGen TOPMed |
|
|
rs1274895579 CA385958534 |
704 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6707169 rs771513083 |
705 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245360580 CA385958516 |
707 | A>D | No |
ClinGen gnomAD |
|
|
rs1235793339 CA385958511 |
708 | P>S | No |
ClinGen TOPMed |
|
|
CA6707168 rs774422514 |
709 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6707167 rs144267969 |
710 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6707166 rs757320385 |
710 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs368561170 CA240146022 |
711 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6707162 rs377190419 |
711 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6707163 rs368561170 COSM943991 |
711 | R>W | liver endometrium Variant assessed as Somatic; 4.628e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA385958492 rs1592588913 |
712 | Y>D | No |
ClinGen Ensembl |
|
|
rs758445246 CA6707160 |
715 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA385958466 rs1592588900 |
716 | Y>D | No |
ClinGen Ensembl |
|
|
rs1332990241 CA385958457 |
717 | L>S | No |
ClinGen TOPMed |
|
|
CA385958448 rs1356942369 |
718 | M>R | No |
ClinGen TOPMed |
|
|
rs1266748483 CA385958441 |
719 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1057138886 CA240145980 |
719 | A>T | No |
ClinGen TOPMed |
|
|
rs148525978 CA6707159 |
720 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA385958437 rs1226992004 |
720 | D>V | No |
ClinGen TOPMed |
|
|
rs765722756 CA6707158 |
723 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 724 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764385851 CA6707155 |
725 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs776993889 CA6707156 |
725 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1425841988 CA385958395 |
726 | P>A | No |
ClinGen gnomAD |
|
|
CA6707154 rs145716716 |
729 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9H2J7
No regional properties for Q9H2J7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H2J7 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 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. |
| branched-chain 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: branched-chain amino acid(out) + cation(out) = branched-chain amino acid(in) + cation(in). |
| neurotransmitter transmembrane transporter activity | Enables the directed movement of a neurotransmitter into, out of or within a cell, or between cells. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neutral 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: neutral amino acid(out) + Na+(out) = neutral amino acid(in) + Na+(in). |
| proline:sodium symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: proline(out) + Na+(out) = proline(in) + Na+(in). |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| amino acid transport | The directed movement of amino acids, organic acids containing one or more amino substituents, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| leucine transport | The directed movement of leucine, 2-amino-4-methylpentanoic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| neurotransmitter transport | The directed movement of a neurotransmitter into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Neurotransmitters are any chemical substance that is capable of transmitting (or inhibiting the transmission of) a nerve impulse from a neuron to another cell. |
| neutral amino acid transport | The directed movement of neutral amino acids, amino acids with no net charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| proline transport | The directed movement of proline, pyrrolidine-2-carboxylic acid, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
20 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P51143 | SLC6A2 | Sodium-dependent noradrenaline transporter | Bos taurus (Bovine) | PR |
| Q9XS59 | SLC6A15 | Sodium-dependent neutral amino acid transporter B(0)AT2 | Bos taurus (Bovine) | PR |
| Q9Y345 | SLC6A5 | Sodium- and chloride-dependent glycine transporter 2 | Homo sapiens (Human) | PR |
| Q9UN76 | SLC6A14 | Sodium- and chloride-dependent neutral and basic amino acid transporter B(0+) | Homo sapiens (Human) | PR |
| P30531 | SLC6A1 | Sodium- and chloride-dependent GABA transporter 1 | Homo sapiens (Human) | PR |
| P48029 | SLC6A8 | Sodium- and chloride-dependent creatine transporter 1 | Homo sapiens (Human) | PR |
| Q9NSD5 | SLC6A13 | Sodium- and chloride-dependent GABA transporter 2 | Homo sapiens (Human) | PR |
| P48066 | SLC6A11 | Sodium- and chloride-dependent GABA transporter 3 | Homo sapiens (Human) | PR |
| P31641 | SLC6A6 | Sodium- and chloride-dependent taurine transporter | Homo sapiens (Human) | PR |
| 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 |
| Q9D687 | Slc6a19 | Sodium-dependent neutral amino acid transporter B(0)AT1 | Mus musculus (Mouse) | PR |
| O88576 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Mus musculus (Mouse) | PR |
| O88575 | Slc6a20b | Sodium- and chloride-dependent transporter XTRP3B | Mus musculus (Mouse) | PR |
| Q8BJI1 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Mus musculus (Mouse) | PR |
| O55192 | Slc6a2 | Sodium-dependent noradrenaline transporter | Mus musculus (Mouse) | PR |
| Q64093 | Slc6a20 | Sodium- and chloride-dependent transporter XTRP3 | Rattus norvegicus (Rat) | PR |
| Q62687 | Slc6a18 | Sodium-dependent neutral amino acid transporter B(0)AT3 | Rattus norvegicus (Rat) | PR |
| P31662 | Slc6a17 | Sodium-dependent neutral amino acid transporter SLC6A17 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPKNSKVVKR | ELDDDVTESV | KDLLSNEDAA | DDAFKTSELI | VDGQEEKDTD | VEEGSEVEDE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RPAWNSKLQY | ILAQVGFSVG | LGNVWRFPYL | CQKNGGGAYL | LPYLILLMVI | GIPLFFLELS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VGQRIRRGSI | GVWNYISPKL | GGIGFASCVV | CYFVALYYNV | IIGWSLFYFS | QSFQQPLPWD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QCPLVKNASH | TFVEPECEQS | SATTYYWYRE | ALNISSSISE | SGGLNWKMTI | CLLAAWVMVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAMIKGIQSS | GKIIYFSSLF | PYVVLICFLI | RAFLLNGSID | GIRHMFTPKL | EIMLEPKVWR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EAATQVFFAL | GLGFGGVIAF | SSYNKRDNNC | HFDAVLVSFI | NFFTSVLATL | VVFAVLGFKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NVINEKCITQ | NSETIMKFLK | MGNISQDIIP | HHINLSTVTA | EDYHLVYDII | QKVKEEEFPA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LHLNSCKIEE | ELNKAVQGTG | LAFIAFTEAM | THFPASPFWS | VMFFLMLVNL | GLGSMFGTIE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GIVTPIVDTF | KVRKEILTVI | CCLLAFCIGL | IFVQRSGNYF | VTMFDDYSAT | LPLLIVVILE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NIAVCFVYGI | DKFMEDLKDM | LGFAPSRYYY | YMWKYISPLM | LLSLLIASVV | NMGLSPPGYN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| AWIEDKASEE | FLSYPTWGLV | VCVSLVVFAI | LPVPVVFIVR | RFNLIDDSSG | NLASVTYKRG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RVLKEPVNLE | GDDTSLIHGK | IPSEMPSPNF | GKNIYRKQSG | SPTLDTAPNG | RYGIGYLMAD |
| IMPDMPESDL |