Q8TDW0
PR
Gene name |
LRRC8C |
Protein name |
Volume-regulated anion channel subunit LRRC8C |
Names |
Factor for adipocyte differentiation 158, Leucine-rich repeat-containing protein 8C |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84230 |
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
468 variants for Q8TDW0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1022882486 CA26929580 |
3 | P>S | No |
ClinGen Ensembl |
|
|
COSM426806 rs751573376 CA943276 |
4 | V>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757475640 CA943277 |
6 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1216100074 CA341139224 |
7 | F>L | No |
ClinGen gnomAD |
|
|
CA341139231 rs1306500477 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
rs781532253 CA943278 |
8 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746141407 TCGA novel CA943279 |
10 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
rs770160931 CA943280 |
11 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274460805 CA341139251 |
11 | S>P | No |
ClinGen gnomAD |
|
|
rs374852558 CA943282 |
18 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185079610 CA341139300 |
18 | R>P | No |
ClinGen gnomAD |
|
|
rs1185079610 CA341139299 |
18 | R>Q | No |
ClinGen gnomAD |
|
|
CA341139333 rs1557661441 |
23 | W>* | No |
ClinGen Ensembl |
|
|
rs1268614001 CA341139353 |
26 | V>M | No |
ClinGen gnomAD |
|
|
CA341139372 rs1557661453 |
28 | T>I | No |
ClinGen Ensembl |
|
|
rs771614537 CA943287 |
34 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA943289 rs768405271 |
39 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371828858 CA943292 |
41 | F>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943293 rs777861840 |
43 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766505843 CA943318 |
47 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943317 rs756322023 |
47 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA341139521 rs1168346092 |
48 | M>I | No |
ClinGen gnomAD |
|
|
rs755279515 CA943320 |
48 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs779292389 CA943321 |
51 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs748546469 CA943322 |
52 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343141901 CA341139550 |
52 | I>T | No |
ClinGen TOPMed |
|
|
CA26932407 rs995890424 |
52 | I>V | No |
ClinGen TOPMed |
|
|
rs1330029917 CA341139559 |
54 | C>S | No |
ClinGen gnomAD |
|
|
CA341139569 rs1371130832 |
55 | L>F | No |
ClinGen gnomAD |
|
|
rs1489744927 CA341139577 |
56 | P>L | No |
ClinGen gnomAD |
|
|
CA26932408 rs1039821724 |
58 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA26932409 rs201804298 |
59 | V>E | No |
ClinGen Ensembl |
|
|
CA26932410 rs201804298 |
59 | V>G | No |
ClinGen Ensembl |
|
|
rs201902728 CA943324 |
60 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs998413425 CA26932411 |
62 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 63 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341139623 rs1272296853 |
64 | N>D | No |
ClinGen gnomAD |
|
|
CA341139628 rs1337631824 |
64 | N>I | No |
ClinGen gnomAD |
|
|
rs1337631824 CA341139627 |
64 | N>S | No |
ClinGen gnomAD |
|
|
rs1570745704 CA341139644 |
66 | S>F | No |
ClinGen Ensembl |
|
|
CA341139648 rs1407694883 |
67 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1557670254 CA341139646 |
67 | S>P | No |
ClinGen Ensembl |
|
|
CA943326 rs770510119 |
68 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA943327 rs148090493 COSM913047 |
69 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs148090493 CA341139660 |
69 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA943329 rs149930098 |
70 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1251055342 CA341139668 |
71 | V>I | No |
ClinGen gnomAD |
|
|
rs148634028 CA943330 |
76 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370106937 CA943331 |
77 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943332 rs143184655 |
78 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341139721 rs1394825220 |
79 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1394825220 CA341139722 |
79 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774499623 CA943333 |
80 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390562872 CA341139745 |
83 | P>L | No |
ClinGen gnomAD |
|
|
rs12567229 CA26932414 |
84 | P>H | No |
ClinGen Ensembl |
|
|
CA943334 rs760642720 |
84 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341139754 rs1298123217 |
85 | K>R | No |
ClinGen gnomAD |
|
|
rs1557670365 CA341139761 |
86 | P>R | No |
ClinGen Ensembl |
|
|
rs766532778 CA943335 |
86 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA341139777 rs1294117624 |
89 | A>S | No |
ClinGen gnomAD |
|
|
rs753889427 CA943336 |
90 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3952719 rs755192499 CA943337 |
91 | P>A | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC |
| TCGA novel | 93 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs928111208 CA26932415 |
93 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753044155 CA943339 |
95 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1488087346 CA341139819 |
96 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA943340 rs532635655 |
97 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs143890354 CA943342 |
101 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA26932416 rs963095565 |
102 | D>A | No |
ClinGen TOPMed |
|
|
rs1268112390 CA341139860 |
102 | D>Y | No |
ClinGen TOPMed |
|
|
CA341139881 rs1475986608 |
105 | L>F | No |
ClinGen gnomAD |
|
|
rs1162103930 CA341139900 |
107 | Q>H | No |
ClinGen gnomAD |
|
|
CA341139911 rs1557670430 |
109 | S>G | No |
ClinGen Ensembl |
|
|
rs1345008330 CA341139939 |
112 | N>K | No |
ClinGen TOPMed |
|
|
rs780711410 CA341139942 |
113 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs780711410 CA943344 |
113 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA943345 rs745373878 |
113 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26932417 rs988188820 |
114 | M>I | No |
ClinGen TOPMed |
|
|
rs1557670452 CA341139948 |
114 | M>V | No |
ClinGen Ensembl |
|
|
CA943346 rs769429538 |
117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA943347 rs779912520 |
118 | R>* | No |
ClinGen ExAC TOPMed |
|
|
CA341139979 rs1176251140 |
118 | R>Q | No |
ClinGen TOPMed |
|
|
rs1399771870 CA341139984 |
119 | A>S | No |
ClinGen gnomAD |
|
|
rs1399771870 CA341139982 |
119 | A>T | No |
ClinGen gnomAD |
|
|
rs1557670482 CA916231705 |
119 | A>V | No |
ClinGen Ensembl |
|
|
CA341139999 rs1429263658 |
121 | H>R | No |
ClinGen TOPMed |
|
|
rs1313871496 CA341140008 |
122 | W>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 122 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943349 rs749090476 |
125 | K>R | No |
ClinGen ExAC |
|
|
rs774409795 CA943351 |
128 | P>S | No |
ClinGen ExAC |
|
|
CA341140074 rs1312041228 |
132 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771936298 CA943353 |
133 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA26932421 rs994691776 |
134 | H>Y | No |
ClinGen Ensembl |
|
|
CA943354 rs377140298 |
139 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043001299 CA26932424 |
139 | M>V | No |
ClinGen TOPMed |
|
|
CA943355 rs759551553 |
142 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA341140200 rs752952438 |
150 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943357 rs752952438 |
150 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341140239 rs1486421543 |
155 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 156 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943359 rs369644745 |
159 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA341140292 rs1362568486 |
163 | G>E | No |
ClinGen gnomAD |
|
|
rs755647362 CA943364 |
169 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 170 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943365 rs779824657 |
173 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 173 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943367 rs768448171 |
179 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778813629 CA943368 |
187 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA943369 rs747904752 |
188 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA341140468 rs1314262177 |
189 | R>K | No |
ClinGen gnomAD |
|
|
rs1374496763 CA341140483 |
191 | N>Y | No |
ClinGen gnomAD |
|
|
CA341140502 COSM1725798 rs1280733824 |
193 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs969719449 CA26932427 |
193 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341140506 rs1336715362 |
194 | N>D | No |
ClinGen TOPMed |
|
|
CA26932428 rs142399220 |
194 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1207820484 CA341140515 |
195 | R>T | No |
ClinGen gnomAD |
|
|
CA341140536 rs1168455790 |
198 | T>I | No |
ClinGen TOPMed |
|
|
CA943372 rs759626418 |
198 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs474536 VAR_051129 CA943376 |
205 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1194767817 CA341140579 |
205 | D>N | No |
ClinGen gnomAD |
|
|
CA341140582 rs474536 |
205 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751893668 CA943377 |
209 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA943378 rs762140957 |
209 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26932430 rs757184187 |
216 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1442613444 CA341140656 |
216 | I>T | No |
ClinGen TOPMed |
|
|
CA26932429 rs753670794 |
216 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 219 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943383 rs753432936 |
221 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA943384 rs754614457 |
227 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1255801870 CA341140737 |
229 | A>T | No |
ClinGen gnomAD |
|
|
CA341140757 rs1456912947 |
232 | K>E | No |
ClinGen gnomAD |
|
|
rs1231052863 CA341140760 |
232 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 237 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943389 rs777740781 |
238 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
| TCGA novel | 239 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420699320 CA341140853 |
245 | V>L | No |
ClinGen gnomAD |
|
|
CA26932432 rs558056157 |
249 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 253 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26932433 rs756770674 |
254 | E>Q | No |
ClinGen Ensembl |
|
|
CA341140932 rs1399907932 |
256 | D>G | No |
ClinGen gnomAD |
|
|
rs1462020357 CA341140940 |
257 | I>T | No |
ClinGen gnomAD |
|
|
rs749383181 CA943394 |
263 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA943396 rs377556616 |
264 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA943395 rs377556616 |
264 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341141005 rs1312501292 |
267 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA943398 rs767823014 |
267 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs374990784 CA943400 |
271 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943399 rs370283663 |
271 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341141036 rs767000338 |
272 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA943401 rs767000338 |
272 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221519006 CA341141066 |
277 | I>L | No |
ClinGen gnomAD |
|
|
rs754596533 CA943403 |
277 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs934150548 CA26932436 |
280 | N>T | No |
ClinGen gnomAD |
|
|
CA943406 rs758088658 |
281 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA341141129 rs1475663072 |
286 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA341141127 rs1296889751 |
286 | K>R | No |
ClinGen TOPMed |
|
|
CA341141185 rs1557670876 |
294 | N>I | No |
ClinGen Ensembl |
|
|
rs746809380 CA943408 |
297 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341141224 rs1173674751 |
299 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1404876112 CA341141226 |
300 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA943409 rs757126379 |
302 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943410 rs72712583 |
304 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749364760 CA943411 |
308 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA943412 rs368604853 |
309 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943414 rs748271233 |
311 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs146186076 CA943415 |
314 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs554085091 CA341141336 |
315 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341141376 rs1285562241 |
321 | F>L | No |
ClinGen gnomAD |
|
|
rs1036006638 CA26932438 |
321 | F>L | No |
ClinGen Ensembl |
|
|
CA341141374 rs1227291625 |
321 | F>S | No |
ClinGen gnomAD |
|
|
rs761137527 CA943417 |
323 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1486096163 CA341141416 |
327 | V>F | No |
ClinGen gnomAD |
|
|
CA341141420 rs1190285578 |
328 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1235992404 CA341141432 |
329 | I>T | No |
ClinGen gnomAD |
|
|
CA341141428 rs1240215247 |
329 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 332 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182100806 CA943420 |
333 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764598758 CA943421 |
333 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763818312 CA943424 |
334 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA943425 rs751342541 |
336 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 339 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA26932439 rs994556022 |
339 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA341141508 rs1446652001 |
340 | W>C | No |
ClinGen gnomAD |
|
|
rs1570746631 CA341141516 |
342 | F>V | No |
ClinGen Ensembl |
|
|
rs750411030 CA943429 |
343 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs371583326 CA943430 |
344 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748267834 CA943432 |
347 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA943431 rs778820765 |
347 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341141553 rs1276965049 |
348 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA26932440 rs1003770809 |
348 | E>D | No |
ClinGen Ensembl |
|
|
CA341141566 rs1276686820 |
350 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA341141590 rs1479787396 |
353 | Y>F | No |
ClinGen TOPMed |
|
|
CA943435 rs747378312 |
355 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs1234723917 CA341141601 |
355 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1441433965 CA341141636 |
360 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176658097 CA341141659 |
363 | I>T | No |
ClinGen gnomAD |
|
|
rs1311910386 CA341141742 |
374 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 375 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943436 rs771467109 |
377 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943437 rs777154736 |
379 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341141813 rs1399600758 |
384 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 408 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763649002 CA943442 |
408 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs374085978 CA341141999 |
410 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767251421 CA943445 |
410 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374085978 CA943444 |
410 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750251531 CA943446 |
411 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1174180123 CA341142008 |
412 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 414 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341142071 rs1198103409 |
421 | N>D | No |
ClinGen gnomAD |
|
|
rs752708379 CA943449 |
423 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943448 rs780056387 |
423 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs866269535 CA26932445 |
425 | R>* | No |
ClinGen Ensembl |
|
|
CA943450 rs758573976 |
425 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA943452 rs747175917 |
427 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA26932446 rs897481928 |
429 | P>R | No |
ClinGen TOPMed |
|
|
rs147275787 CA943454 |
431 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1330180240 CA341142137 |
432 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA341142142 rs1395843172 |
432 | M>R | No |
ClinGen gnomAD |
|
|
rs1330180240 CA341142139 |
432 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781633185 CA341142146 |
433 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1321953349 CA341142149 |
433 | L>P | No |
ClinGen gnomAD |
|
|
rs781633185 CA943455 |
433 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1251932829 CA341142158 |
435 | G>R | No |
ClinGen TOPMed |
|
|
CA26932447 rs1049286212 |
436 | L>R | No |
ClinGen TOPMed |
|
|
rs149529211 CA943457 |
439 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26932448 rs968012904 |
441 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 442 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341142201 rs1297057509 |
442 | E>Q | No |
ClinGen TOPMed |
|
|
rs188344379 CA943459 |
443 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA943460 rs762338886 |
445 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA341142238 rs1384712196 |
447 | Q>R | No |
ClinGen TOPMed |
|
|
rs773873869 CA943462 |
449 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750163797 CA943465 |
453 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA943464 rs767163360 |
453 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA943466 rs760580392 |
454 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397080567 CA341142280 |
454 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 455 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766226957 CA943467 |
456 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA943469 rs753858417 |
456 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273545660 CA341142301 |
457 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764225757 CA943471 |
457 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764225757 CA943470 |
457 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1169317042 CA341142310 |
458 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA341142319 rs1245330849 |
460 | P>S | No |
ClinGen TOPMed |
|
|
CA341142332 rs1459023170 |
462 | T>A | No |
ClinGen gnomAD |
|
|
CA341142352 rs1367377303 |
465 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA341142363 rs1161924852 |
467 | D>N | No |
ClinGen gnomAD |
|
|
CA943473 rs139178832 |
467 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341142370 rs1383062679 |
468 | N>H | No |
ClinGen gnomAD |
|
|
rs12032393 CA943474 VAR_051130 |
468 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 469 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 472 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341142410 rs1197635101 |
473 | S>F | No |
ClinGen TOPMed |
|
|
rs1351761114 CA341142417 |
475 | H>Y | No |
ClinGen gnomAD |
|
|
CA943475 rs371950033 |
476 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341142432 rs1216087119 |
477 | C>G | No |
ClinGen gnomAD |
|
|
CA26932451 rs1009644796 |
479 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1286827258 CA341142463 |
481 | I>T | No |
ClinGen gnomAD |
|
|
rs1242723162 CA341142474 |
483 | S>G | No |
ClinGen gnomAD |
|
|
COSM913052 CA341142486 rs1246963813 |
484 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA341142490 rs770087026 |
485 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943477 rs749754612 |
485 | A>S | No |
ClinGen ExAC gnomAD |
|
|
COSM913053 rs770087026 CA943478 |
485 | A>V | endometrium Variant assessed as Somatic; 0.0001911 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA943480 rs747673573 |
486 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA26932453 rs898867449 |
487 | S>C | No |
ClinGen gnomAD |
|
|
rs1424981379 CA341142502 |
488 | F>L | No |
ClinGen gnomAD |
|
|
CA943484 rs772987684 |
490 | K>R | No |
ClinGen ExAC |
|
|
rs1454813834 CA341142531 |
492 | N>D | No |
ClinGen gnomAD |
|
|
CA341142538 rs1570747261 |
493 | L>V | No |
ClinGen Ensembl |
|
|
rs760360717 CA943485 |
494 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26932455 rs921278750 |
495 | V>D | No |
ClinGen TOPMed |
|
|
CA341142551 rs979455798 |
495 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA26932454 rs979455798 |
495 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs776317453 CA943487 |
496 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943491 rs200185887 |
498 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200185887 COSM1474251 CA943490 |
498 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767815813 CA943492 |
501 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA341142602 rs1240840780 |
502 | D>E | No |
ClinGen gnomAD |
|
|
CA341142612 rs1288115852 |
504 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 504 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341142627 rs1158812882 |
506 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756312797 CA943497 |
508 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140914343 CA943499 |
508 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140914343 CA943498 |
508 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943500 rs140914343 |
508 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943496 rs756312797 |
508 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570952447 CA26932456 |
509 | W>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| rs762972819 | 509 | W>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762972819 | 509 | W>L | Variant assessed as Somatic; 4.683e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341142654 rs1349783906 |
510 | M>I | No |
ClinGen gnomAD |
|
|
CA943502 rs771614441 |
511 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943504 rs746628711 |
514 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341142677 rs553442751 |
514 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA943505 rs553442751 |
514 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341142708 rs1351120075 |
519 | L>V | No |
ClinGen TOPMed |
|
|
CA341142742 rs1361102713 |
524 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199876585 CA943511 COSM71497 |
525 | L>R | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA943510 rs775607882 |
525 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs368179314 CA26932458 |
526 | S>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs760886028 CA943513 |
529 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26932459 rs576179665 |
532 | N>Y | No |
ClinGen 1000Genomes |
|
|
rs150400983 CA26932460 COSM110530 |
534 | T>I | Variant assessed as Somatic; impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 535 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557671604 CA341142808 |
535 | L>V | No |
ClinGen Ensembl |
|
|
CA26932461 rs771330548 |
536 | E>D | No |
ClinGen TOPMed |
|
|
CA943515 rs754219189 COSM1582259 |
539 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA943516 rs755405574 |
540 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA943517 rs779364569 |
541 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1471916201 CA341142878 |
546 | I>V | No |
ClinGen TOPMed |
|
|
rs777266019 CA943520 |
549 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs758930604 CA943519 |
549 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA341142902 rs1192121814 |
550 | K>E | No |
ClinGen gnomAD |
|
|
rs746527429 CA943521 |
550 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341142905 rs1427747270 |
550 | K>R | No |
ClinGen gnomAD |
|
|
CA26932462 rs371299260 |
552 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA943522 rs543634219 |
553 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1447411204 CA341142938 |
555 | K>R | No |
ClinGen TOPMed |
|
|
rs1057151229 CA26932463 |
557 | P>S | No |
ClinGen TOPMed |
|
|
rs745656198 CA943524 |
560 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA943525 rs769771340 |
561 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1293862720 CA341142978 |
562 | D>N | No |
ClinGen gnomAD |
|
|
rs1293862720 CA341142980 |
562 | D>Y | No |
ClinGen gnomAD |
|
|
CA341143010 rs1369410460 |
566 | H>R | No |
ClinGen gnomAD |
|
|
rs1217283138 CA341143016 |
567 | L>F | No |
ClinGen gnomAD |
|
|
rs1300091700 CA341143044 |
570 | M>I | No |
ClinGen gnomAD |
|
|
rs139429089 CA341143054 |
572 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943526 RCV000963596 rs139429089 |
572 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA26932464 rs908670146 |
574 | N>S | No |
ClinGen Ensembl |
|
|
rs140888492 CA26932465 |
575 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1452105159 CA341143078 |
575 | D>V | No |
ClinGen gnomAD |
|
|
rs1343083481 CA341143083 |
576 | G>S | No |
ClinGen TOPMed |
|
|
rs768507215 CA341143094 |
578 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs768507215 CA943528 |
578 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1248991731 CA341143113 |
581 | M>L | No |
ClinGen gnomAD |
|
|
rs576573370 CA943529 |
583 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341143137 rs1430973858 |
584 | N>S | No |
ClinGen TOPMed |
|
|
CA943530 rs760715636 |
585 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 586 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759877141 CA943533 |
588 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1327792995 CA341143171 |
589 | T>A | No |
ClinGen TOPMed |
|
|
rs1423055151 CA341143175 |
589 | T>S | No |
ClinGen gnomAD |
|
|
rs765524454 CA943534 |
590 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1320721050 CA341143215 |
595 | E>D | No |
ClinGen TOPMed |
|
|
rs753095674 CA943535 |
596 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA341143220 rs1434027963 |
597 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 598 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758893273 CA943536 |
598 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751052777 CA943538 |
602 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA943539 rs372703605 |
603 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780885370 CA943540 COSM4144238 |
603 | R>H | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1388549044 CA341143265 |
604 | I>L | No |
ClinGen TOPMed |
|
|
CA341143272 rs1228408997 |
605 | P>S | No |
ClinGen gnomAD |
|
|
CA943542 rs769574432 |
613 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA943543 rs779955508 |
615 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA341143360 rs1489375505 |
618 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 619 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768614196 CA943545 |
620 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1473131517 CA341143398 |
623 | N>D | No |
ClinGen gnomAD |
|
|
rs774193603 CA943546 |
623 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA943547 rs747105433 |
626 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1162666686 CA341143424 |
627 | I>T | No |
ClinGen gnomAD |
|
|
rs770971157 CA943548 |
627 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 629 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759683039 CA943550 |
630 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA943552 rs369412861 |
631 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26932467 rs1056206309 |
637 | R>G | No |
ClinGen Ensembl |
|
|
CA943553 rs763270880 |
638 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA943554 rs764661246 |
638 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA341143505 rs1377591336 |
639 | L>M | No |
ClinGen gnomAD |
|
|
CA26932470 rs113075842 |
650 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1309972108 CA341143586 |
650 | T>I | No |
ClinGen TOPMed |
|
|
CA341143616 rs1277336412 |
655 | H>N | No |
ClinGen TOPMed |
|
|
CA341143630 rs1310665596 |
656 | I>M | No |
ClinGen gnomAD |
|
|
CA341143653 rs1570747936 |
660 | T>P | No |
ClinGen Ensembl |
|
|
rs1214593926 CA341143662 |
661 | S>N | No |
ClinGen TOPMed |
|
|
CA341143666 rs1356236379 |
661 | S>R | No |
ClinGen gnomAD |
|
|
CA341143667 rs1341050385 |
662 | L>M | No |
ClinGen TOPMed |
|
|
CA943555 rs138758211 |
664 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943556 rs757798044 |
664 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 666 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767069826 CA943557 |
666 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA943558 rs34622833 |
668 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA26932472 rs954035607 |
672 | I>T | No |
ClinGen TOPMed |
|
|
rs1472529315 CA341143748 |
674 | V>L | No |
ClinGen gnomAD |
|
|
rs755778760 CA943559 |
677 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA26932473 rs755778760 |
677 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA943560 rs779900485 |
683 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA341143826 rs1414731638 |
686 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1335581415 CA341143827 |
686 | R>Q | No |
ClinGen gnomAD |
|
|
CA341143833 rs1446677400 |
687 | Y>C | No |
ClinGen gnomAD |
|
|
rs754794046 CA943562 |
687 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs772047021 CA943565 |
691 | S>L | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377538470 CA943564 |
691 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943568 rs143876723 |
692 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs955492976 CA26932475 |
693 | N>D | No |
ClinGen Ensembl |
|
|
CA943569 rs775758015 |
695 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs141148352 CA943570 |
696 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764308538 CA943571 |
696 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341143908 rs1238710510 |
698 | I>M | No |
ClinGen gnomAD |
|
|
CA341143903 rs1448697341 |
698 | I>V | No |
ClinGen TOPMed |
|
| rs1557671997 | 700 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341143933 rs1363049932 |
702 | I>T | No |
ClinGen gnomAD |
|
|
rs1478251383 CA341143942 |
704 | V>I | No |
ClinGen gnomAD |
|
|
CA341143982 rs1173916430 |
709 | Q>R | No |
ClinGen gnomAD |
|
|
rs768159927 CA943574 |
710 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185156586 CA341143987 |
710 | Y>H | No |
ClinGen TOPMed |
|
|
rs201339680 CA26932476 |
712 | S>P | No |
ClinGen Ensembl |
|
|
CA943576 rs372538740 |
715 | C>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA943577 rs766124239 |
716 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA26932477 rs919106626 |
720 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1331995538 CA341144100 |
726 | Y>C | No |
ClinGen gnomAD |
|
|
rs754670200 CA943579 |
727 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA341144136 rs1344663694 |
731 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761613169 CA26932478 |
735 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA943581 rs748002414 |
736 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341144169 rs1341949686 |
736 | I>V | No |
ClinGen TOPMed |
|
|
rs76509396 COSM1748649 CA341144176 |
737 | G>A | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs76509396 CA26932479 |
737 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 737 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78968735 CA26932480 |
739 | N>T | No |
ClinGen Ensembl |
|
|
CA341144209 rs758313899 |
742 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs758313899 CA943582 |
742 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA943584 rs376913036 |
743 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943586 rs780122502 |
745 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA943587 COSM71498 rs749404793 |
746 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA26932481 rs961562952 |
746 | P>S | No |
ClinGen TOPMed |
|
|
rs961562952 CA341144227 |
746 | P>T | No |
ClinGen TOPMed |
|
|
rs768955208 CA943588 |
752 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 753 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920190698 CA26932483 |
758 | D>G | No |
ClinGen gnomAD |
|
|
CA341144310 rs920190698 |
758 | D>V | No |
ClinGen gnomAD |
|
|
CA341144323 rs1338458336 |
760 | K>R | No |
ClinGen gnomAD |
|
|
rs772675410 CA943591 |
763 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943592 rs773921188 |
766 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943594 rs765927037 |
768 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA26932485 rs980468098 |
772 | G>C | No |
ClinGen Ensembl |
|
|
rs1177701870 CA341144406 |
773 | D>H | No |
ClinGen TOPMed |
|
|
CA341144416 rs1481358532 |
774 | C>F | No |
ClinGen TOPMed |
|
|
CA943597 rs202168906 |
775 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3952720 CA26932486 rs147917578 |
775 | R>W | ovary [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP TOPMed gnomAD |
|
rs764993549 CA943598 |
779 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943599 rs189327162 |
779 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA943601 rs777676635 |
784 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341144497 rs1300210026 |
787 | A>G | No |
ClinGen gnomAD |
|
|
CA341144501 rs1224795103 |
788 | L>P | No |
ClinGen TOPMed |
|
|
CA341144499 rs1557672214 |
788 | L>V | No |
ClinGen Ensembl |
|
|
rs757191825 CA943603 |
789 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA943604 rs779958681 |
790 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA341144520 rs1313600067 |
791 | T>I | No |
ClinGen gnomAD |
|
|
CA341144530 rs1409220525 |
793 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 794 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768737447 CA943606 |
795 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA943609 rs772620539 |
796 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376966765 CA943608 |
796 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773723019 CA943610 |
797 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA26932488 rs945224051 |
797 | R>W | No |
ClinGen TOPMed |
|
|
rs12036569 CA943611 VAR_051131 CA341144577 |
800 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs1465487923 COSM3806076 CA341144593 |
803 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
No associated diseases with Q8TDW0
7 regional properties for Q8TDW0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Armadillo | 108 - 191 | IPR000225-1 |
| repeat | Armadillo | 193 - 234 | IPR000225-2 |
| repeat | Armadillo | 236 - 320 | IPR000225-3 |
| repeat | Armadillo | 319 - 402 | IPR000225-4 |
| repeat | Armadillo | 405 - 445 | IPR000225-5 |
| domain | Importin-alpha, importin-beta-binding domain | 1 - 97 | IPR002652 |
| repeat | Atypical Arm repeat | 460 - 506 | IPR032413 |
Functions
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| 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. |
| ion channel complex | A protein complex that spans a membrane and forms a water-filled channel across the phospholipid bilayer allowing selective ion transport down its electrochemical gradient. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| volume-sensitive anion channel activity | Enables the transmembrane transfer of an anion by a volume-sensitive channel. An anion is a negatively charged ion. A volume-sensitive channel is a channel that responds to changes in the volume of a cell. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| anion transmembrane transport | The process in which an anion is transported across a membrane. |
| aspartate transmembrane transport | The process in which aspartate is transported across a lipid bilayer, from one side of a membrane to the other. |
| cellular response to osmotic stress | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell. |
| cyclic-GMP-AMP transmembrane import across plasma membrane | The directed movement of cyclic-GMP-AMP from outside of a cell, across the plasma membrane and into the cytosol. |
| fat cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of an adipocyte, an animal connective tissue cell specialized for the synthesis and storage of fat. |
| protein hexamerization | The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits. |
| 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. |
36 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHH9 | ECM2 | Extracellular matrix protein 2 | Bos taurus (Bovine) | PR |
| P58874 | OPTC | Opticin | Bos taurus (Bovine) | PR |
| Q24K06 | LRRC10 | Leucine-rich repeat-containing protein 10 | Bos taurus (Bovine) | PR |
| Q9V780 | Lap1 | Protein lap1 | Drosophila melanogaster (Fruit fly) | PR |
| Q96NW7 | LRRC7 | Leucine-rich repeat-containing protein 7 | Homo sapiens (Human) | PR |
| Q9HCJ2 | LRRC4C | Leucine-rich repeat-containing protein 4C | Homo sapiens (Human) | PR |
| Q9UFC0 | LRWD1 | Leucine-rich repeat and WD repeat-containing protein 1 | Homo sapiens (Human) | PR |
| Q86UN2 | RTN4RL1 | Reticulon-4 receptor-like 1 | Homo sapiens (Human) | PR |
| Q8IWK6 | ADGRA3 | Adhesion G protein-coupled receptor A3 | Homo sapiens (Human) | PR |
| Q96FE5 | LINGO1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Homo sapiens (Human) | PR |
| Q38SD2 | LRRK1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Homo sapiens (Human) | EV |
| Q7L1W4 | LRRC8D | Volume-regulated anion channel subunit LRRC8D | Homo sapiens (Human) | PR |
| Q8IWT6 | LRRC8A | Volume-regulated anion channel subunit LRRC8A | Homo sapiens (Human) | PR |
| Q96L50 | LRR1 | Leucine-rich repeat protein 1 | Homo sapiens (Human) | PR |
| A6H694 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Mus musculus (Mouse) | PR |
| Q9D9Q0 | Lrrc69 | Leucine-rich repeat-containing protein 69 | Mus musculus (Mouse) | PR |
| Q8BGI7 | Lrrc39 | Leucine-rich repeat-containing protein 39 | Mus musculus (Mouse) | PR |
| Q7TT36 | Adgra3 | Adhesion G protein-coupled receptor A3 | Mus musculus (Mouse) | PR |
| P59383 | Lrrn4 | Leucine-rich repeat neuronal protein 4 | Mus musculus (Mouse) | PR |
| Q9D1T0 | Lingo1 | Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q8K0S5 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Mus musculus (Mouse) | PR |
| Q80TE7 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Mus musculus (Mouse) | PR |
| Q5DU41 | Lrrc8b | Volume-regulated anion channel subunit LRRC8B | Mus musculus (Mouse) | PR |
| Q5RKR3 | Islr2 | Immunoglobulin superfamily containing leucine-rich repeat protein 2 | Mus musculus (Mouse) | PR |
| Q8C031 | Lrrc4c | Leucine-rich repeat-containing protein 4C | Mus musculus (Mouse) | PR |
| Q80WG5 | Lrrc8a | Volume-regulated anion channel subunit LRRC8A | Mus musculus (Mouse) | PR |
| Q8R502 | Lrrc8c | Volume-regulated anion channel subunit LRRC8C | Mus musculus (Mouse) | PR |
| P70587 | Lrrc7 | Leucine-rich repeat-containing protein 7 | Rattus norvegicus (Rat) | PR |
| Q4V8G0 | Lrrc63 | Leucine-rich repeat-containing protein 63 | Rattus norvegicus (Rat) | PR |
| Q80WD0 | Rtn4rl1 | Reticulon-4 receptor-like 1 | Rattus norvegicus (Rat) | PR |
| Q9TZM3 | lrk-1 | Leucine-rich repeat serine/threonine-protein kinase 1 | Caenorhabditis elegans | SS |
| Q9SHI4 | RLP3 | Receptor-like protein 3 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q5G5E0 | PIRL5 | Plant intracellular Ras-group-related LRR protein 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B0JZ65 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q68F79 | lrrc8e | Volume-regulated anion channel subunit LRRC8E | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| B0R160 | lrwd1 | Leucine-rich repeat and WD repeat-containing protein 1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIPVTEFRQF | SEQQPAFRVL | KPWWDVFTDY | LSVAMLMIGV | FGCTLQVMQD | KIICLPKRVQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAQNHSSLSN | VSQAVASTTP | LPPPKPSPAN | PITVEMKGLK | TDLDLQQYSF | INQMCYERAL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HWYAKYFPYL | VLIHTLVFML | CSNFWFKFPG | SSSKIEHFIS | ILGKCFDSPW | TTRALSEVSG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EDSEEKDNRK | NNMNRSNTIQ | SGPEDSLVNS | QSLKSIPEKF | VVDKSTAGAL | DKKEGEQAKA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LFEKVKKFRL | HVEEGDILYA | MYVRQTVLKV | IKFLIIIAYN | SALVSKVQFT | VDCNVDIQDM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TGYKNFSCNH | TMAHLFSKLS | FCYLCFVSIY | GLTCLYTLYW | LFYRSLREYS | FEYVRQETGI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DDIPDVKNDF | AFMLHMIDQY | DPLYSKRFAV | FLSEVSENKL | KQLNLNNEWT | PDKLRQKLQT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NAHNRLELPL | IMLSGLPDTV | FEITELQSLK | LEIIKNVMIP | ATIAQLDNLQ | ELSLHQCSVK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| IHSAALSFLK | ENLKVLSVKF | DDMRELPPWM | YGLRNLEELY | LVGSLSHDIS | RNVTLESLRD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LKSLKILSIK | SNVSKIPQAV | VDVSSHLQKM | CIHNDGTKLV | MLNNLKKMTN | LTELELVHCD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LERIPHAVFS | LLSLQELDLK | ENNLKSIEEI | VSFQHLRKLT | VLKLWHNSIT | YIPEHIKKLT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SLERLSFSHN | KIEVLPSHLF | LCNKIRYLDL | SYNDIRFIPP | EIGVLQSLQY | FSITCNKVES |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LPDELYFCKK | LKTLKIGKNS | LSVLSPKIGN | LLFLSYLDVK | GNHFEILPPE | LGDCRALKRA |
| 790 | 800 | ||||
| GLVVEDALFE | TLPSDVREQM | KTE |