Q7L1W4
PR
Gene name |
LRRC8D |
Protein name |
Volume-regulated anion channel subunit LRRC8D |
Names |
Leucine-rich repeat-containing protein 5, Leucine-rich repeat-containing protein 8D, HsLRRC8D |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55144 |
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
2 structures for Q7L1W4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6M04 | EM | 436 A | A/B/C/D/E/F | 1-858 | PDB |
| AF-Q7L1W4-F1 | Predicted | AlphaFoldDB |
465 variants for Q7L1W4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 1 | M>? | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765291834 CA943642 |
3 | T>P | No |
ClinGen ExAC |
|
|
rs752852838 CA943643 |
4 | L>R | No |
ClinGen ExAC |
|
|
CA943644 rs758640767 |
5 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943645 rs758640767 COSM913061 |
5 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1041768721 CA26598364 |
7 | V>L | No |
ClinGen TOPMed |
|
|
rs1417280911 CA341031554 |
13 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 16 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1557490131 CA341031588 |
18 | R>* | No |
ClinGen Ensembl |
|
|
rs757702208 CA943647 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26598375 rs756040587 |
19 | I>M | No |
ClinGen Ensembl |
|
|
rs1302073156 CA341031649 |
27 | F>L | No |
ClinGen gnomAD |
|
|
rs770235622 CA943650 |
35 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 37 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 37 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341031728 rs1320023417 |
38 | V>I | No |
ClinGen TOPMed |
|
|
rs774933704 CA943651 |
40 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA943652 rs146767902 |
42 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341031770 rs1229354442 |
44 | T>N | No |
ClinGen gnomAD |
|
|
CA943653 rs768267535 |
45 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341031777 rs1315466738 |
45 | M>V | No |
ClinGen gnomAD |
|
|
rs1222219138 CA341031790 |
46 | Q>E | No |
ClinGen gnomAD |
|
|
CA943654 rs774056977 |
51 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA341031879 rs774056977 |
51 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs367986845 CA943655 |
52 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767282941 CA943656 |
53 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1174780736 CA341031966 |
58 | L>S | No |
ClinGen TOPMed |
|
|
rs1182325494 CA341031976 |
59 | P>S | No |
ClinGen gnomAD |
|
|
rs1387022708 CA341031988 |
60 | S>F | No |
ClinGen gnomAD |
|
|
CA341031997 rs1162762567 |
61 | P>L | No |
ClinGen gnomAD |
|
|
CA341031991 rs1442543546 |
61 | P>T | No |
ClinGen gnomAD |
|
|
CA341032001 rs1380510688 |
62 | V>L | No |
ClinGen gnomAD |
|
|
rs1219161156 CA341032013 |
63 | N>T | No |
ClinGen Ensembl |
|
|
rs1402126359 CA341032033 COSM913062 |
64 | S>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs760619293 CA943658 |
66 | A>V | No |
ClinGen ExAC |
|
|
rs1232234610 CA341032067 |
67 | H>D | No |
ClinGen gnomAD |
|
|
CA26598407 rs940067571 |
67 | H>R | No |
ClinGen gnomAD |
|
|
CA943661 rs758622265 |
70 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA943662 rs201155012 |
71 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943665 rs116705117 |
74 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943666 rs200937607 |
75 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222234880 CA341032156 |
76 | T>I | No |
ClinGen gnomAD |
|
|
rs753686455 CA943667 |
77 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs780579249 CA943668 |
78 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212420127 CA341032244 |
82 | M>I | No |
ClinGen gnomAD |
|
|
CA26598496 rs866356278 |
83 | E>V | No |
ClinGen Ensembl |
|
|
rs1276268761 CA341032270 |
84 | A>T | No |
ClinGen TOPMed |
|
|
CA943669 rs149255883 |
86 | T>I | No |
ClinGen ESP ExAC |
|
|
CA26598523 rs951071361 |
91 | D>H | No |
ClinGen TOPMed |
|
|
CA943672 rs139352797 |
93 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA26598527 COSM1344797 rs773687858 |
93 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA943671 rs139352797 |
93 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1267145629 CA341032538 |
94 | T>I | No |
ClinGen Ensembl |
|
|
rs1367448606 CA341032548 |
95 | T>K | No |
ClinGen TOPMed |
|
|
rs147514186 CA943674 |
97 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760432404 CA943675 |
98 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA943676 rs371401818 |
102 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA943677 rs371401818 |
102 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs541307766 CA341032707 |
103 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541307766 CA943679 |
103 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1450292429 CA341032740 |
105 | V>M | No |
ClinGen gnomAD |
|
|
CA341032769 rs1332664788 |
106 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1440482682 CA341032776 |
107 | P>S | No |
ClinGen gnomAD |
|
|
CA341032821 rs751723123 |
110 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943681 rs751723123 |
110 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341032846 rs1415540222 |
111 | L>P | No |
ClinGen TOPMed |
|
|
CA943683 rs149773721 |
112 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1322963966 CA341032890 |
114 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA341032904 rs1258649150 |
115 | Y>C | No |
ClinGen gnomAD |
|
|
rs750770209 CA943684 |
115 | Y>H | No |
ClinGen ExAC |
|
|
rs756503041 CA943685 |
116 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 116 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371224968 CA943686 |
117 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs541701188 CA943687 |
117 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs541701188 CA341032934 |
117 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376711817 COSM913065 CA943690 |
121 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA26598634 rs1022040563 |
121 | A>V | No |
ClinGen Ensembl |
|
|
CA943691 rs146779702 |
123 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA26598638 rs903624966 |
124 | N>D | No |
ClinGen gnomAD |
|
|
CA943692 rs777326302 |
125 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs746810497 CA943693 |
127 | A>T | No |
ClinGen ExAC |
|
|
rs1328662950 CA341033100 |
128 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341033163 rs1331867942 |
131 | K>R | No |
ClinGen gnomAD |
|
|
CA341033187 rs1298487006 |
132 | K>N | No |
ClinGen TOPMed |
|
|
rs370062279 CA943694 |
132 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281644842 CA341033198 |
133 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1281644842 CA341033190 |
133 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA943695 rs372329196 |
134 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1388473949 CA341033224 |
135 | T>A | No |
ClinGen gnomAD |
|
|
rs377123755 CA26598657 |
136 | G>D | No |
ClinGen ESP TOPMed |
|
|
CA943696 rs759509540 |
137 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA943697 rs769875757 |
138 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341454683 CA341033304 |
140 | N>I | No |
ClinGen gnomAD |
|
|
rs1370338164 CA341033319 |
141 | L>S | No |
ClinGen TOPMed |
|
|
CA341033458 rs1224191686 |
147 | V>G | No |
ClinGen gnomAD |
|
|
rs955433703 CA26598693 |
147 | V>I | No |
ClinGen TOPMed |
|
|
rs1479785080 CA341033492 |
149 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 151 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747208023 CA26598701 |
157 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747208023 CA341033649 |
157 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766660730 CA943703 |
159 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1422868671 CA341033732 |
161 | Y>H | No |
ClinGen TOPMed |
|
|
CA341033851 rs1237537236 |
166 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA26598757 rs182544024 |
169 | A>V | No |
ClinGen 1000Genomes |
|
|
rs201589297 CA26598761 |
171 | I>V | No |
ClinGen Ensembl |
|
|
rs146511634 CA26598767 |
172 | H>R | No |
ClinGen ESP |
|
|
rs752218122 CA943707 |
174 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA943708 rs752218122 |
174 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1359814568 CA341033949 |
177 | M>I | No |
ClinGen gnomAD |
|
|
rs757004803 CA943711 |
177 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs746578663 CA943710 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1557490803 CA341034102 |
189 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 201 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 201 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943716 rs748247593 |
207 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341034302 COSM913066 rs1220999242 |
212 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA341034331 rs1162124413 |
217 | A>T | No |
ClinGen gnomAD |
|
|
rs980476679 CA26598865 |
218 | C>Y | No |
ClinGen TOPMed |
|
|
CA341034344 COSM261839 rs1290881348 |
219 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 220 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 226 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943723 rs748656645 |
229 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758951548 CA943725 |
233 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1412219696 CA341034472 |
237 | H>L | No |
ClinGen TOPMed |
|
|
rs376537988 CA943726 |
238 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943727 rs563703678 |
240 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293476864 CA341034494 |
241 | S>G | No |
ClinGen TOPMed |
|
|
rs770473399 CA26598888 |
242 | S>T | No |
ClinGen Ensembl |
|
|
rs1347644547 CA341034522 |
244 | E>D | No |
ClinGen TOPMed |
|
|
CA341034518 rs1456912630 |
244 | E>K | No |
ClinGen TOPMed |
|
|
rs756949333 CA943728 |
246 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA943729 rs372718094 |
247 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745656260 CA943730 |
248 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943731 rs756032786 |
252 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA341035658 rs1204112064 |
253 | M>V | No |
ClinGen gnomAD |
|
|
rs1557490988 CA341035705 |
255 | N>D | No |
ClinGen Ensembl |
|
|
rs1473523399 CA341035752 |
258 | G>D | No |
ClinGen TOPMed |
|
|
rs1190554598 CA341035807 |
261 | F>I | No |
ClinGen TOPMed |
|
|
rs749112053 CA943733 |
262 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA341035832 rs1487521533 |
262 | S>A | No |
ClinGen TOPMed |
|
|
rs768669426 CA943734 |
266 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528095720 CA26598922 |
268 | I>F | No |
ClinGen 1000Genomes TOPMed |
|
|
rs528095720 CA341035909 |
268 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
rs773116079 CA943735 |
273 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA26598923 rs903591102 |
276 | L>V | No |
ClinGen Ensembl |
|
|
rs1440717786 CA341036071 |
277 | D>E | No |
ClinGen gnomAD |
|
|
rs192939284 CA26598933 |
278 | K>R | No |
ClinGen 1000Genomes |
|
|
CA341036154 rs1362284273 |
284 | A>T | No |
ClinGen gnomAD |
|
|
CA341036246 rs1406695522 |
291 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs113803764 CA26598978 |
294 | F>L | No |
ClinGen Ensembl |
|
|
rs1470893412 COSM1344798 CA341036291 |
295 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA341036296 rs1254031784 |
295 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs759877162 CA943739 |
305 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA943740 rs765456178 |
307 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs917494992 CA341036420 |
308 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA26599008 rs917494992 |
308 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1333683493 CA341036427 |
309 | V>A | No |
ClinGen gnomAD |
|
|
rs1237671170 CA341036429 |
310 | V>I | No |
ClinGen gnomAD |
|
|
rs200031163 CA26599015 |
311 | Q>K | No |
ClinGen Ensembl |
|
|
CA341036449 rs1325107072 |
313 | V>L | No |
ClinGen gnomAD |
|
|
rs775956717 CA943742 |
314 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341036465 rs1557491144 |
315 | K>R | No |
ClinGen Ensembl |
|
|
rs1179387632 CA341036489 |
319 | F>L | No |
ClinGen gnomAD |
|
|
rs751082895 CA943745 |
320 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1557491169 CA341036518 |
323 | L>V | No |
ClinGen Ensembl |
|
|
rs971599696 CA26599029 |
325 | Y>C | No |
ClinGen TOPMed |
|
|
rs761481161 CA943746 |
327 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341036575 rs1431478271 |
331 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA943748 rs750039790 |
332 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007879241 CA26599071 |
333 | I>V | No |
ClinGen Ensembl |
|
|
rs779672491 CA943750 |
337 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs568692732 CA341036622 |
338 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568692732 CA943752 |
338 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778946048 CA943753 |
340 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA341036650 rs1283547850 |
342 | K>T | No |
ClinGen gnomAD |
|
|
rs1015449383 CA26599110 |
345 | H>Q | No |
ClinGen Ensembl |
|
|
rs1283199322 CA341036685 |
347 | I>T | No |
ClinGen gnomAD |
|
|
CA341036698 rs1246349857 |
349 | Y>C | No |
ClinGen TOPMed |
|
|
CA943756 rs781256386 |
353 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA943757 rs746052453 |
358 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs770080782 CA943758 |
358 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1255823170 CA341036788 |
361 | M>I | No |
ClinGen TOPMed |
|
|
rs1223430892 CA341036816 |
365 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 366 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943760 rs763416530 |
367 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA943763 rs762425269 |
370 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943762 rs550850674 |
370 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA943761 rs769039606 |
370 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11552246 VAR_051132 CA26599173 |
371 | S>Y | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 372 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767067670 CA943764 |
372 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 375 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA943766 rs760195492 |
379 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 379 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754864651 CA943769 |
383 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA26599207 rs569445297 |
384 | L>V | No |
ClinGen 1000Genomes |
|
|
CA341037163 rs1362084220 |
388 | F>S | No |
ClinGen gnomAD |
|
|
rs752570108 CA943771 |
390 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA341037191 rs1385368044 |
390 | I>T | No |
ClinGen TOPMed |
|
|
rs1307213346 CA341037555 |
405 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341037601 rs1294206692 |
407 | S>G | No |
ClinGen gnomAD |
|
|
rs1221808823 CA341037652 |
409 | I>T | No |
ClinGen gnomAD |
|
|
rs781202919 CA943773 |
409 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM913070 rs867009932 CA341037770 |
415 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs867009932 CA26599258 |
415 | D>Y | No |
ClinGen TOPMed |
|
|
rs1557491455 CA341037880 |
419 | L>F | No |
ClinGen Ensembl |
|
|
rs112093722 CA26599272 |
419 | L>P | No |
ClinGen Ensembl |
|
|
CA916230307 rs1570902756 |
421 | H>Q | No |
ClinGen Ensembl |
|
|
rs1570902765 CA916230308 |
422 | M>I | No |
ClinGen Ensembl |
|
|
CA943775 rs146329161 |
423 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1199158550 CA341038093 |
428 | Q>K | No |
ClinGen TOPMed |
|
|
CA943778 rs558309156 |
430 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1396449975 CA341038140 |
431 | S>A | No |
ClinGen gnomAD |
|
|
CA26599318 rs998072914 |
432 | K>M | No |
ClinGen TOPMed |
|
|
rs774861655 COSM913072 CA943779 |
433 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 433 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 435 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341038185 rs1281586273 |
435 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 437 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 447 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762368280 CA943780 |
451 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs749739094 CA943781 |
453 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341038437 rs1361943127 |
453 | H>Y | No |
ClinGen gnomAD |
|
|
CA943782 rs573252987 |
456 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341038501 rs1294824794 |
457 | F>L | No |
ClinGen TOPMed |
|
|
rs771428345 CA26599350 |
458 | E>Q | No |
ClinGen Ensembl |
|
|
CA943783 rs760271952 |
461 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs913482337 CA26599358 |
462 | Q>K | No |
ClinGen Ensembl |
|
|
rs1285229318 CA341038567 |
462 | Q>L | No |
ClinGen gnomAD |
|
|
rs183941207 CA943786 |
466 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs552314767 CA26599394 |
466 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA943788 rs752513124 |
468 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943789 rs752513124 |
468 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs922123824 CA26599416 |
468 | A>V | No |
ClinGen Ensembl |
|
|
rs374228678 CA26599429 |
473 | E>K | No |
ClinGen ESP |
|
|
rs1557491609 CA341038728 |
474 | L>S | No |
ClinGen Ensembl |
|
|
CA341038725 rs1429085067 |
474 | L>V | No |
ClinGen TOPMed |
|
|
CA341038739 rs1442559745 |
475 | H>D | No |
ClinGen gnomAD |
|
|
CA943792 rs750465884 |
478 | M>V | No |
ClinGen ExAC |
|
|
CA943793 rs756275492 |
479 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs780013792 CA943794 |
480 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs144201536 CA943796 |
481 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748572079 CA943798 |
482 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs774092326 CA943800 |
484 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs746484638 CA943801 |
489 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs370648509 CA26599473 |
491 | D>N | No |
ClinGen Ensembl |
|
|
CA341039050 rs1375873177 |
492 | L>P | No |
ClinGen gnomAD |
|
|
rs770413850 CA943802 |
493 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs890895858 CA26599483 |
493 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 495 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 501 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs958446809 CA26599493 |
503 | A>T | No |
ClinGen TOPMed |
|
|
CA341039378 rs1324406742 |
507 | A>G | No |
ClinGen gnomAD |
|
|
rs374536195 CA943804 |
512 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943803 rs776006319 |
512 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA943805 rs764921968 |
513 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA341039521 rs1186649182 |
514 | N>H | No |
ClinGen gnomAD |
|
|
CA341039532 rs1233080127 |
514 | N>S | No |
ClinGen gnomAD |
|
|
CA341039542 rs1490495920 |
515 | L>F | No |
ClinGen Ensembl |
|
|
rs1482381733 CA341039616 |
518 | L>F | No |
ClinGen TOPMed |
|
|
rs866867580 CA26599546 |
519 | H>Y | No |
ClinGen Ensembl |
|
|
CA341039669 rs775238159 |
520 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775238159 CA943806 |
520 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112842021 CA26599558 COSM682769 |
521 | C>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs149720248 CA26599566 |
525 | A>V | No |
ClinGen ESP |
|
|
CA943808 rs764005946 |
531 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs757148100 CA943810 |
536 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA943813 rs755227009 |
537 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753883648 CA341039908 |
537 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753883648 CA943812 |
537 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA341039937 rs1557491838 |
538 | H>Q | No |
ClinGen Ensembl |
|
|
rs779316613 CA943814 |
541 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs76944859 CA943815 |
543 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1279203117 CA341040017 |
544 | V>M | No |
ClinGen gnomAD |
|
|
rs1346158169 CA341040039 |
545 | K>R | No |
ClinGen gnomAD |
|
|
rs778010158 CA943817 |
546 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA943818 rs747479227 |
547 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368199290 CA943819 |
547 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1273403314 CA341040103 |
549 | V>A | No |
ClinGen gnomAD |
|
|
CA943820 rs776185456 |
551 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs769437053 CA943822 |
553 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26599676 rs113493005 |
553 | P>L | No |
ClinGen Ensembl |
|
|
CA341040177 rs1250616085 |
554 | A>S | No |
ClinGen gnomAD |
|
|
rs370360483 CA943823 |
554 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1427786115 CA341040204 |
556 | V>M | No |
ClinGen gnomAD |
|
|
CA341040228 rs1463252507 |
557 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 558 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341040266 rs1418988705 |
560 | K>E | No |
ClinGen TOPMed |
|
|
rs768374117 CA943825 |
563 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341040347 rs148854534 |
566 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943829 rs148854534 |
566 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759756071 CA943830 |
568 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341040360 rs1406823302 |
568 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759756071 CA341040358 |
568 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26599733 rs969930767 |
569 | G>S | No |
ClinGen Ensembl |
|
|
rs765538578 CA943831 COSM682768 |
570 | N>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 575 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373779774 CA943835 |
576 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1423277036 CA341040440 |
579 | I>T | No |
ClinGen gnomAD |
|
|
CA341040438 rs1273570891 |
579 | I>V | No |
ClinGen TOPMed |
|
|
CA341040450 rs1188624324 |
581 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1273444877 CA341040456 |
582 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA943837 rs781655773 |
585 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1224029529 CA341040485 |
586 | E>D | No |
ClinGen gnomAD |
|
|
CA943838 COSM1213934 rs745373233 |
588 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1213933 rs910629309 CA26599798 |
588 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1281169362 CA341040520 |
592 | I>V | No |
ClinGen TOPMed |
|
|
CA943841 rs779545647 |
594 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs769236754 CA943839 |
594 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA943843 rs141973155 |
595 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943842 rs141973155 |
595 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341040543 rs1419910955 |
596 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA341040570 rs1386065199 |
599 | L>W | No |
ClinGen gnomAD |
|
|
rs1426744489 CA341040588 |
602 | V>F | No |
ClinGen gnomAD |
|
|
rs1426744489 CA341040587 |
602 | V>I | No |
ClinGen gnomAD |
|
|
CA341040598 rs1463921358 |
603 | P>L | No |
ClinGen gnomAD |
|
|
rs374246537 CA943844 |
606 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320155027 CA341040629 |
608 | D>G | No |
ClinGen TOPMed |
|
|
rs1455941388 CA341040633 |
609 | V>M | No |
ClinGen TOPMed |
|
|
rs1410651936 CA341040640 |
610 | A>P | No |
ClinGen TOPMed |
|
|
CA341040660 rs1557492135 |
613 | L>V | No |
ClinGen Ensembl |
|
|
CA341040672 rs1478011449 |
615 | K>E | No |
ClinGen TOPMed |
|
|
CA943845 rs772040932 |
615 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 616 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1318880203 CA341040702 |
619 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 622 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760698030 CA943847 |
622 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300659745 CA341040732 |
623 | T>I | No |
ClinGen gnomAD |
|
|
CA341040734 rs1359924888 |
624 | K>E | No |
ClinGen gnomAD |
|
|
rs1377866180 CA341040743 |
625 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM198140 CA341040896 rs1355034425 |
638 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA341040903 rs1205266082 |
638 | A>V | No |
ClinGen gnomAD |
|
|
rs751816398 CA26599860 |
639 | E>D | No |
ClinGen Ensembl |
|
|
CA943850 rs763215592 |
643 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs868756691 CA26599885 |
651 | P>L | No |
ClinGen Ensembl |
|
|
rs1344305548 CA341041064 |
651 | P>S | No |
ClinGen TOPMed |
|
|
rs1273138691 CA341041098 |
653 | A>G | No |
ClinGen TOPMed |
|
|
CA341041101 rs1188525256 |
654 | I>L | No |
ClinGen gnomAD |
|
|
CA26599895 rs1047010037 |
657 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1446840881 CA341041162 |
659 | N>H | No |
ClinGen gnomAD |
|
|
CA341041276 rs1454360882 |
668 | N>S | No |
ClinGen gnomAD |
|
|
rs150250132 CA943853 |
669 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA943854 rs545464719 |
670 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750863887 COSM2259254 CA943855 |
671 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA943856 rs756646478 COSM426809 |
671 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779492632 CA943857 |
674 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA26599922 rs563864278 |
677 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA341041393 rs563864278 |
677 | I>V | No |
ClinGen 1000Genomes gnomAD |
|
|
CA943858 rs748843198 |
679 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1005803119 CA26599951 |
681 | H>R | No |
ClinGen TOPMed |
|
|
CA943859 rs768321927 |
681 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA943860 rs778495839 |
686 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA341041551 rs377262856 CA943862 |
691 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1455161768 CA341041570 |
692 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 693 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373730414 CA26599984 |
694 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 695 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341041604 rs1395180283 |
695 | I>V | No |
ClinGen TOPMed |
|
|
rs1187514243 CA341041619 |
696 | V>A | No |
ClinGen TOPMed |
|
|
rs894231273 CA26599994 |
698 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 699 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376123276 CA943863 |
700 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA26600019 rs1052405671 |
700 | P>L | No |
ClinGen Ensembl |
|
|
CA943864 rs188890266 |
701 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA341041670 rs771012964 |
702 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA341041674 rs1255704501 |
702 | I>T | No |
ClinGen gnomAD |
|
|
CA943865 COSM3806082 rs771012964 |
702 | I>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 707 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764367233 CA943868 |
711 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1472313085 CA341041825 |
714 | S>F | No |
ClinGen gnomAD |
|
|
rs774383573 CA943869 |
715 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943870 rs762100631 |
716 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs767735051 CA943871 |
717 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs369411464 CA943874 |
719 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341041886 rs1348020461 |
724 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA341041885 rs1348020461 |
724 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1036618132 CA26600129 |
725 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 725 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754503809 CA943876 |
728 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA943878 rs747685835 |
733 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA341041950 rs1326338900 |
733 | C>Y | No |
ClinGen gnomAD |
|
|
CA26600169 rs111473177 |
739 | N>S | No |
ClinGen Ensembl |
|
|
CA341042006 rs1375483807 |
741 | I>L | No |
ClinGen TOPMed |
|
| TCGA novel | 742 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249895515 CA341042015 |
742 | S>A | No |
ClinGen gnomAD |
|
|
CA341042018 rs1167483555 |
742 | S>L | No |
ClinGen TOPMed |
|
|
rs999098609 CA26600182 |
743 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770990690 CA943882 |
745 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA943884 rs745835597 |
746 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774907894 CA943883 |
746 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943885 rs760643991 |
748 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189940589 CA341042065 |
749 | G>E | No |
ClinGen TOPMed |
|
|
CA943886 rs774521305 |
749 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943887 rs761893375 |
750 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA341042079 rs905798399 |
751 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs905798399 CA26600202 |
751 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1273996025 CA341042100 |
753 | N>D | No |
ClinGen TOPMed |
|
|
CA943890 rs374800793 |
756 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA341042162 rs1346878352 |
758 | H>Y | No |
ClinGen gnomAD |
|
|
rs1035965844 CA26600229 |
759 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341042221 rs1308380631 |
762 | N>S | No |
ClinGen gnomAD |
|
|
CA943894 rs764611097 |
765 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA943893 rs142774258 |
765 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA341042277 rs1227981365 |
766 | I>M | No |
ClinGen TOPMed |
|
|
CA341042281 rs1223543510 |
767 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA341042304 rs1487555919 |
769 | K>Q | No |
ClinGen gnomAD |
|
|
rs757963350 CA943896 |
769 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295538924 CA341042324 |
770 | Q>L | No |
ClinGen TOPMed |
|
|
CA341042352 rs1172324902 |
772 | F>C | No |
ClinGen gnomAD |
|
|
CA943898 rs146627333 |
773 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943899 rs757061371 |
773 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA943900 rs781139603 |
775 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA26600274 rs755418978 |
777 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 780 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745757408 CA943901 |
781 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA341042486 rs1192776468 |
783 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA26600279 rs1020272175 |
784 | Q>E | No |
ClinGen Ensembl |
|
|
rs151217773 CA943902 |
786 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 786 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364956688 CA341042558 |
788 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA943905 rs145230984 |
791 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA341042610 rs1173584092 |
792 | E>D | No |
ClinGen gnomAD |
|
|
rs1264767601 CA341042630 |
794 | V>A | No |
ClinGen gnomAD |
|
|
rs1190465506 CA341042638 |
796 | Q>E | No |
ClinGen gnomAD |
|
|
rs569447847 CA943908 |
796 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341042676 rs1557492722 |
801 | T>I | No |
ClinGen Ensembl |
|
|
CA341042684 rs1183747833 |
802 | Q>H | No |
ClinGen gnomAD |
|
|
CA943910 rs373333730 |
805 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1570904171 CA341042719 |
808 | N>T | No |
ClinGen Ensembl |
|
|
rs1570904175 CA341042743 |
811 | D>A | No |
ClinGen Ensembl |
|
|
rs1403082993 CA341042749 |
812 | R>C | No |
ClinGen gnomAD |
|
|
CA943911 rs142018032 |
812 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142018032 CA341042751 |
812 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752115350 CA943912 |
814 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1570904211 CA341042769 |
816 | Q>E | No |
ClinGen Ensembl |
|
|
CA26600361 CA341042793 rs377147367 |
819 | Q>H | No |
ClinGen ESP gnomAD |
|
|
CA943913 rs370582839 |
821 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA943914 rs763711979 |
821 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757000768 CA943916 |
827 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780104247 CA943920 |
832 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1328911504 CA341042878 |
832 | D>V | No |
ClinGen TOPMed |
|
|
CA341042885 rs1238813792 |
833 | H>P | No |
ClinGen gnomAD |
|
|
CA341042886 rs1238813792 |
833 | H>R | No |
ClinGen gnomAD |
|
|
CA943921 rs748160724 |
834 | L>F | No |
ClinGen ExAC |
|
|
CA341042899 rs1471582997 |
835 | F>S | No |
ClinGen gnomAD |
|
|
CA26600446 rs943766881 |
836 | D>N | No |
ClinGen Ensembl |
|
|
rs200795939 CA943924 |
837 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA341042912 rs200795939 |
837 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777830180 CA943923 |
837 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA341042938 rs1470497306 |
841 | E>D | No |
ClinGen gnomAD |
|
|
rs1357814373 CA341042962 |
845 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1447506935 CA341042987 |
848 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 849 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376761112 CA943928 |
850 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 853 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA341043019 rs1226719914 |
853 | P>T | No |
ClinGen gnomAD |
|
|
CA341043033 rs1327511029 |
855 | A>T | No |
ClinGen TOPMed |
|
|
CA943929 rs148820496 |
855 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763559435 CA943930 |
858 | I>V | No |
ClinGen ExAC gnomAD |
No associated diseases with Q7L1W4
16 regional properties for Q7L1W4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | PDZ domain | 1450 - 1535 | IPR001478 |
| repeat | Leucine-rich repeat | 46 - 102 | IPR001611-1 |
| repeat | Leucine-rich repeat | 139 - 195 | IPR001611-2 |
| repeat | Leucine-rich repeat | 208 - 275 | IPR001611-3 |
| repeat | Leucine-rich repeat | 346 - 402 | IPR001611-4 |
| repeat | Leucine-rich repeat, typical subtype | 48 - 68 | IPR003591-1 |
| repeat | Leucine-rich repeat, typical subtype | 91 - 113 | IPR003591-2 |
| repeat | Leucine-rich repeat, typical subtype | 137 - 159 | IPR003591-3 |
| repeat | Leucine-rich repeat, typical subtype | 160 - 182 | IPR003591-4 |
| repeat | Leucine-rich repeat, typical subtype | 183 - 205 | IPR003591-5 |
| repeat | Leucine-rich repeat, typical subtype | 206 - 228 | IPR003591-6 |
| repeat | Leucine-rich repeat, typical subtype | 229 - 252 | IPR003591-7 |
| repeat | Leucine-rich repeat, typical subtype | 253 - 274 | IPR003591-8 |
| repeat | Leucine-rich repeat, typical subtype | 275 - 298 | IPR003591-9 |
| repeat | Leucine-rich repeat, typical subtype | 321 - 344 | IPR003591-10 |
| repeat | Leucine-rich repeat, typical subtype | 367 - 389 | IPR003591-11 |
Functions
7 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 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. |
| 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. |
6 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 glucose homeostasis | A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. |
| 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. |
| 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 |
| Q8IWT6 | LRRC8A | Volume-regulated anion channel subunit LRRC8A | Homo sapiens (Human) | PR |
| Q8TDW0 | LRRC8C | Volume-regulated anion channel subunit LRRC8C | 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 |
| MFTLAEVASL | NDIQPTYRIL | KPWWDVFMDY | LAVVMLMVAI | FAGTMQLTKD | QVVCLPVLPS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PVNSKAHTPP | GNAEVTTNIP | KMEAATNQDQ | DGRTTNDISF | GTSAVTPDIP | LRATYPRTDF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALPNQEAKKE | KKDPTGRKTN | LDFQQYVFIN | QMCYHLALPW | YSKYFPYLAL | IHTIILMVSS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NFWFKYPKTC | SKVEHFVSIL | GKCFESPWTT | KALSETACED | SEENKQRITG | AQTLPKHVST |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SSDEGSPSAS | TPMINKTGFK | FSAEKPVIEV | PSMTILDKKD | GEQAKALFEK | VRKFRAHVED |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SDLIYKLYVV | QTVIKTAKFI | FILCYTANFV | NAISFEHVCK | PKVEHLIGYE | VFECTHNMAY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MLKKLLISYI | SIICVYGFIC | LYTLFWLFRI | PLKEYSFEKV | REESSFSDIP | DVKNDFAFLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HMVDQYDQLY | SKRFGVFLSE | VSENKLREIS | LNHEWTFEKL | RQHISRNAQD | KQELHLFMLS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GVPDAVFDLT | DLDVLKLELI | PEAKIPAKIS | QMTNLQELHL | CHCPAKVEQT | AFSFLRDHLR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| CLHVKFTDVA | EIPAWVYLLK | NLRELYLIGN | LNSENNKMIG | LESLRELRHL | KILHVKSNLT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KVPSNITDVA | PHLTKLVIHN | DGTKLLVLNS | LKKMMNVAEL | ELQNCELERI | PHAIFSLSNL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QELDLKSNNI | RTIEEIISFQ | HLKRLTCLKL | WHNKIVTIPP | SITHVKNLES | LYFSNNKLES |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LPVAVFSLQK | LRCLDVSYNN | ISMIPIEIGL | LQNLQHLHIT | GNKVDILPKQ | LFKCIKLRTL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NLGQNCITSL | PEKVGQLSQL | TQLELKGNCL | DRLPAQLGQC | RMLKKSGLVV | EDHLFDTLPL |
| 850 | |||||
| EVKEALNQDI | NIPFANGI |