Q8IWT6
PR
Gene name |
LRRC8A |
Protein name |
Volume-regulated anion channel subunit LRRC8A |
Names |
Leucine-rich repeat-containing protein 8A, HsLRRC8A, Swelling protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56262 |
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
9 structures for Q8IWT6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5ZSU | EM | 425 A | A/B/C/D/E/F | 1-810 | PDB |
| 6DJB | EM | 440 A | A/B/C/D/E/F | 1-810 | PDB |
| 7XZH | EM | 278 A | A/B/C/D/E/F | 1-808 | PDB |
| 8DXN | EM | 340 A | PDB | ||
| 8DXO | EM | 360 A | PDB | ||
| 8DXP | EM | 370 A | A/B/C/D/E/F/G | 182-206 | PDB |
| 8DXQ | EM | 380 A | A/B/C/D/E/F/G | 182-206 | PDB |
| 8DXR | EM | 400 A | A/B/C/D/E/F/G | 182-206 | PDB |
| AF-Q8IWT6-F1 | Predicted | AlphaFoldDB |
469 variants for Q8IWT6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs147311433 CA5270673 RCV002550594 RCV000986130 |
68 | S>L | Agammaglobulinemia 5, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5270916 rs150164316 RCV000986131 RCV001858634 |
529 | A>V | Agammaglobulinemia 5, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs138622041 CA5270919 RCV002495422 RCV000896132 |
536 | V>I | Agammaglobulinemia 5, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5270937 rs143836544 RCV000999902 RCV000506923 |
567 | V>M | Agammaglobulinemia 5, autosomal dominant [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001329721 rs1840810037 |
756 | L>missing | Agammaglobulinemia 5, autosomal dominant [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375071448 rs1393810234 |
3 | P>A | No |
ClinGen TOPMed |
|
|
rs1438107774 CA375071456 |
3 | P>L | No |
ClinGen gnomAD |
|
|
CA5270653 rs746577901 |
8 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs770380359 CA5270654 |
8 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776583981 CA5270655 |
11 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466313871 CA375071579 |
13 | T>A | No |
ClinGen gnomAD |
|
|
rs1297439083 CA375071584 |
13 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775495654 CA5270658 |
15 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA375071604 rs1309555967 |
15 | P>L | No |
ClinGen gnomAD |
|
|
rs764430309 CA5270661 |
18 | R>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1460348 CA5270662 rs757315550 |
22 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1588218551 CA375071726 |
24 | W>G | No |
ClinGen Ensembl |
|
|
rs750869864 CA5270664 |
29 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA200414357 rs756615821 |
31 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270665 rs756615821 |
31 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188781434 CA375071875 |
33 | I>V | No |
ClinGen TOPMed |
|
|
rs749710079 CA5270667 |
34 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468055044 CA375071907 |
35 | M>K | No |
ClinGen gnomAD |
|
|
rs1189565875 CA375071988 |
39 | A>P | No |
ClinGen gnomAD |
|
|
CA375072012 rs1307828883 |
40 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5270670 rs746664471 |
44 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1588218636 CA375072178 |
48 | T>P | No |
ClinGen Ensembl |
|
|
CA375072296 rs1370436629 |
51 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 52 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200414429 rs943104380 |
54 | C>G | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5270672 rs776287274 |
61 | T>P | No |
ClinGen ExAC |
|
|
CA375072625 rs1393305986 |
62 | K>R | No |
ClinGen gnomAD |
|
|
rs1392123877 CA375072714 |
65 | C>Y | No |
ClinGen TOPMed |
|
|
CA375072734 rs1433648927 |
66 | N>D | No |
ClinGen gnomAD |
|
|
rs1039809292 CA200414453 |
66 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1370355502 CA375072794 |
68 | S>A | No |
ClinGen gnomAD |
|
|
CA5270676 rs762843165 |
70 | R>Q | Variant assessed as Somatic; 4.703e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5270675 rs140911584 |
70 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200414521 rs144778925 |
71 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5270678 rs144778925 |
71 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA375072898 rs1248591526 |
72 | W>* | No |
ClinGen gnomAD |
|
|
rs1488857601 CA375072912 |
72 | W>C | No |
ClinGen gnomAD |
|
|
CA5270680 rs767569198 |
73 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA375072949 rs1157861073 |
74 | A>V | No |
ClinGen Ensembl |
|
|
CA5270683 rs201084502 |
77 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201084502 CA5270684 |
77 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201084502 CA5270682 |
77 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA200414553 rs1057394938 |
79 | P>H | No |
ClinGen TOPMed |
|
|
rs367907856 CA5270686 |
80 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270687 rs746604201 |
81 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5270688 rs756925249 |
83 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1298080969 CA375073216 |
86 | I>V | No |
ClinGen gnomAD |
|
|
CA5270690 rs200279236 |
88 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1564526784 COSM1243383 CA375073245 |
88 | P>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs769820325 CA5270691 |
89 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1355897217 CA375073265 |
91 | D>N | No |
ClinGen gnomAD |
|
|
CA5270693 rs150865438 |
92 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774023995 CA5270695 |
95 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283771961 CA375073316 |
98 | K>E | No |
ClinGen gnomAD |
|
|
rs956429726 CA200414611 |
98 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1032396301 CA200414604 |
98 | K>R | No |
ClinGen TOPMed |
|
|
rs1466153382 CA375073387 |
103 | R>Q | No |
ClinGen TOPMed |
|
|
CA375073384 rs1194113105 |
103 | R>W | No |
ClinGen gnomAD |
|
|
CA375073421 rs762092635 |
105 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5270698 rs370697938 |
109 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370697938 CA5270699 |
109 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5270701 rs754313093 |
111 | A>V | No |
ClinGen ExAC |
|
|
rs1156354825 CA375073545 |
113 | C>R | No |
ClinGen gnomAD |
|
|
rs1359149351 CA375073570 |
114 | Y>C | No |
ClinGen gnomAD |
|
|
rs753059529 CA5270704 |
115 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1340179138 CA375073623 |
117 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756908314 CA5270705 |
117 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200414701 rs966725666 |
119 | H>R | No |
ClinGen gnomAD |
|
|
rs1239478983 CA375073684 |
120 | W>C | No |
ClinGen gnomAD |
|
|
rs1312570379 CA375073895 |
129 | V>M | No |
ClinGen gnomAD |
|
|
COSM3327812 CA5270709 rs779726996 |
133 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5270714 rs772252221 |
145 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs911359511 CA200414746 |
148 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs921116669 CA200414750 |
148 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 151 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375074578 rs1474137354 |
156 | F>L | No |
ClinGen TOPMed |
|
|
rs140343083 CA5270719 |
165 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1674876 rs527954548 CA5270720 |
170 | T>M | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA5270723 rs764571146 |
174 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA375074967 rs1588219385 |
182 | D>A | No |
ClinGen Ensembl |
|
|
CA5270729 rs778757258 |
185 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777547914 CA5270732 |
190 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA375075089 rs1477365438 |
190 | M>V | No |
ClinGen gnomAD |
|
|
rs1013122468 CA200414921 |
192 | G>E | No |
ClinGen TOPMed |
|
|
rs1465435257 CA375075120 |
193 | S>P | No |
ClinGen gnomAD |
|
|
rs145423415 CA5270734 |
194 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1329512515 CA375075125 |
194 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1436712251 CA375075132 |
195 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 197 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 198 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200414926 rs1054977403 |
198 | S>L | No |
ClinGen Ensembl |
|
|
rs199868379 CA5270735 |
199 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904715452 CA200414934 |
201 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5270737 rs769943910 |
202 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270738 rs775807817 |
202 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5270741 rs764489463 |
205 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764489463 CA5270740 |
205 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375077176 rs1264726169 |
207 | A>V | No |
ClinGen gnomAD |
|
|
CA5270742 rs760393169 |
208 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA375077186 rs1270271844 |
208 | T>I | No |
ClinGen gnomAD |
|
|
rs753358771 CA5270744 |
209 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1462745097 CA375077224 |
210 | P>R | No |
ClinGen gnomAD |
|
|
rs371652202 CA5270746 |
211 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs902618895 CA200414970 |
214 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA5270748 rs758396179 |
214 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs777529563 CA5270749 |
215 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297710361 CA375077387 |
218 | R>Q | No |
ClinGen Ensembl |
|
|
rs746854036 CA5270750 |
218 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270752 rs781228597 |
220 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375077459 rs1263320019 |
221 | Q>R | No |
ClinGen gnomAD |
|
|
rs958031501 CA200414982 |
224 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769700611 CA5270754 |
226 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270755 rs775648092 |
226 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270758 rs769346865 |
229 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375077592 rs769346865 |
229 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371749144 CA200415028 |
231 | V>M | No |
ClinGen ESP gnomAD |
|
|
CA5270763 rs759230247 |
234 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs764647768 CA5270764 |
238 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 245 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 246 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375078042 rs1588219887 |
247 | V>G | No |
ClinGen Ensembl |
|
|
CA5270766 rs758307862 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5270769 rs756949846 |
259 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781050816 CA5270770 |
262 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375078210 rs1200292571 |
262 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779987345 CA5270773 |
266 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756428984 CA5270772 |
266 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1379712627 CA375078282 |
268 | T>I | No |
ClinGen gnomAD |
|
|
CA375078291 rs1468230829 |
269 | I>V | No |
ClinGen gnomAD |
|
|
CA375078344 rs1160345836 |
273 | I>V | No |
ClinGen gnomAD |
|
|
CA5270776 rs779523995 |
274 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1275434183 CA375078389 |
276 | I>T | No |
ClinGen TOPMed |
|
|
rs1225989512 CA375078386 |
276 | I>V | No |
ClinGen Ensembl |
|
|
rs552188883 CA5270777 |
277 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1348488069 CA375078405 |
278 | I>L | No |
ClinGen TOPMed |
|
|
rs1309641760 CA375078417 |
278 | I>M | No |
ClinGen TOPMed |
|
|
CA5270779 rs565708221 |
282 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA200415124 rs62585596 |
282 | T>N | No |
ClinGen Ensembl |
|
|
CA5270781 rs569164485 |
283 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763613538 CA5270784 |
286 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA375078565 rs1412899153 |
288 | N>T | No |
ClinGen TOPMed |
|
|
CA375078572 rs1427354934 |
289 | I>L | No |
ClinGen TOPMed |
|
|
CA375078577 rs1232980816 |
289 | I>T | No |
ClinGen gnomAD |
|
|
CA375078593 rs1484452696 |
290 | K>R | No |
ClinGen gnomAD |
|
|
CA5270787 rs767215901 |
291 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA5270789 rs756269981 |
292 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5270792 rs755059520 |
293 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA5270791 rs754146653 |
293 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs983179405 CA200415165 |
294 | D>E | No |
ClinGen Ensembl |
|
|
rs147274949 CA5270793 |
294 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376268338 CA5270795 |
297 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1397736460 CA375078699 |
299 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 300 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747438929 CA5270797 |
301 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA5270798 rs771228754 |
303 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5270799 rs771228754 |
303 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299831506 CA375078729 |
304 | G>D | No |
ClinGen gnomAD |
|
|
rs1326053903 CA375078738 |
305 | Y>* | No |
ClinGen gnomAD |
|
|
CA375078741 rs368054918 |
306 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768085461 CA5270801 |
306 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs368054918 CA5270800 |
306 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375078744 rs1588220336 |
307 | T>P | No |
ClinGen Ensembl |
|
|
rs1354571672 CA375078750 |
307 | T>S | No |
ClinGen TOPMed |
|
|
CA5270803 rs761647938 |
309 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5270804 rs767542501 |
309 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270805 rs772854961 |
310 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA375078809 rs140764686 |
312 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1421017362 CA375078851 |
316 | T>I | No |
ClinGen gnomAD |
|
|
CA375078900 rs1348728271 |
320 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 320 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754056467 CA5270808 |
322 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA375078958 rs1347986016 |
324 | F>L | No |
ClinGen gnomAD |
|
|
rs879069762 CA200415292 |
324 | F>Y | No |
ClinGen Ensembl |
|
|
rs758799080 CA5270812 |
327 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1338691028 CA375079037 |
329 | V>A | No |
ClinGen gnomAD |
|
|
CA5270813 rs778302015 |
331 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375079069 rs1324812620 |
332 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1105756 CA375079077 rs1321154896 |
333 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5270816 rs781537305 |
336 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1192650582 CA375079138 |
337 | M>I | No |
ClinGen gnomAD |
|
|
CA5270817 rs748930999 |
337 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5270822 rs773155128 |
341 | W>C | No |
ClinGen ExAC |
|
|
CA5270821 rs771516939 |
341 | W>R | No |
ClinGen ExAC |
|
|
rs1270006101 CA375079194 |
342 | W>* | No |
ClinGen TOPMed |
|
|
rs1412652516 CA375079216 |
345 | R>Q | No |
ClinGen gnomAD |
|
|
rs1228929702 CA375079215 |
345 | R>W | No |
ClinGen TOPMed |
|
|
CA5270824 rs369271984 |
346 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1367994080 CA375079221 |
346 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375079228 rs1381660614 |
347 | S>F | No |
ClinGen TOPMed |
|
|
rs759809196 CA5270826 |
349 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1588220707 CA375079253 |
351 | Y>D | No |
ClinGen Ensembl |
|
|
COSM1624601 CA375079264 rs1433365481 |
352 | S>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA375079272 rs1226676905 |
353 | F>L | No |
ClinGen gnomAD |
|
|
CA375079269 rs1378781401 |
353 | F>S | No |
ClinGen gnomAD |
|
|
CA375079273 rs1317323578 |
354 | E>K | No |
ClinGen gnomAD |
|
|
rs150868273 CA5270830 RCV000757444 |
355 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs372596695 CA5270829 |
355 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200415482 rs1053875486 |
359 | E>D | No |
ClinGen gnomAD |
|
|
RCV001295700 rs1216300411 CA375079306 |
359 | E>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs545124011 CA5270834 |
367 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA375079373 rs778590498 |
368 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270836 rs778590498 |
368 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466444860 CA375079511 |
377 | H>P | No |
ClinGen gnomAD |
|
|
rs377623986 CA5270838 |
379 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5270839 rs772601634 |
380 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs771039933 CA5270841 |
381 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5270843 rs200499695 |
384 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA200415556 rs200499695 |
384 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA200415570 rs1006929985 |
388 | K>E | No |
ClinGen Ensembl |
|
| TCGA novel | 389 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5270846 rs763087796 |
391 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5270848 rs751644875 |
392 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375079917 rs1588220995 |
399 | E>K | No |
ClinGen Ensembl |
|
|
rs1308849551 CA375079932 |
400 | N>S | No |
ClinGen gnomAD |
|
|
CA200415598 rs1026205659 COSM1105757 |
403 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1363218753 CA375079991 |
404 | Q>* | No |
ClinGen TOPMed |
|
|
rs1413156046 CA375080061 |
407 | L>R | No |
ClinGen gnomAD |
|
|
rs572071996 CA5270852 |
410 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5270853 rs371265409 |
412 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5270854 rs752328296 |
414 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777314749 CA5270856 |
416 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs746556593 CA5270857 |
417 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168282295 CA375080184 |
417 | R>W | No |
ClinGen TOPMed |
|
| TCGA novel | 418 | Q>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375080212 rs1225140786 |
419 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1188676886 CA375080242 |
421 | T>S | No |
ClinGen TOPMed |
|
|
rs1263350903 CA375080263 |
422 | K>E | No |
ClinGen gnomAD |
|
|
CA5270859 rs781226116 |
424 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs754072305 CA200415638 COSM1105758 |
424 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs80098191 CA375080339 |
425 | Q>H | No |
ClinGen gnomAD |
|
|
CA200415647 rs996546896 |
426 | D>H | No |
ClinGen TOPMed |
|
|
rs1202097217 CA375080478 |
436 | S>I | No |
ClinGen gnomAD |
|
|
rs1588221221 CA375080503 |
438 | I>V | No |
ClinGen Ensembl |
|
|
rs774386257 CA5270865 |
446 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5270866 rs761845403 |
448 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375080690 rs1406509378 |
451 | L>F | No |
ClinGen gnomAD |
|
|
CA375080851 rs888329063 |
458 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1339612175 CA375080835 |
458 | D>N | No |
ClinGen gnomAD |
|
|
CA375080868 rs1252734487 |
459 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs374277407 CA200415853 |
460 | T>N | No |
ClinGen ESP |
|
|
CA5270870 rs766763754 |
462 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766763754 CA375080948 |
462 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375080977 rs1289756448 |
464 | S>N | No |
ClinGen gnomAD |
|
|
rs770091691 CA200415880 |
465 | I>T | No |
ClinGen TOPMed |
|
|
rs1225163782 CA375080991 |
465 | I>V | No |
ClinGen gnomAD |
|
|
CA375081045 rs1269974722 |
466 | A>V | No |
ClinGen gnomAD |
|
|
rs866300713 CA200415890 |
467 | Q>* | No |
ClinGen Ensembl |
|
|
CA5270872 rs758037166 |
468 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5270873 rs530372793 |
469 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1363631797 CA375081135 |
470 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1363631797 CA375081142 |
470 | G>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 471 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756769337 CA5270875 |
474 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA375081352 rs1375431343 |
478 | H>P | No |
ClinGen TOPMed |
|
|
rs1303696267 CA375081345 |
478 | H>Y | No |
ClinGen gnomAD |
|
|
rs745791453 CA5270877 |
480 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433723247 CA375081407 |
481 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5270880 rs749079625 |
485 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5270884 rs772074379 |
487 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA375081554 rs1225279411 |
487 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs766833840 CA5270887 |
492 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs143569780 CA5270888 |
492 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5270890 rs765646398 |
493 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375081738 rs1371324324 |
495 | L>V | No |
ClinGen gnomAD |
|
|
rs565795685 CA5270893 |
496 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368702927 CA5270892 |
496 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5270895 rs756050286 |
497 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270898 rs754675539 |
500 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs778685359 CA375081813 |
500 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA375081825 rs1395104268 |
501 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 502 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5270900 rs748366547 |
503 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270902 rs773255727 |
504 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351855683 CA375081993 |
506 | K>R | No |
ClinGen gnomAD |
|
|
CA5270903 rs747018423 |
507 | E>A | No |
ClinGen ExAC |
|
|
rs765688712 CA5270907 |
514 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375082630 rs1465382720 |
522 | H>N | No |
ClinGen gnomAD |
|
|
rs572471752 CA200416126 |
524 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs750124206 CA5270911 |
526 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5270915 rs377359713 |
529 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA200416181 COSM1674877 rs113017554 |
533 | R>C | Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA200416179 rs113017554 |
533 | R>G | No |
ClinGen gnomAD |
|
|
CA5270918 rs370564927 |
533 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770848613 CA5270921 |
538 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1014078023 CA200416215 |
539 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA375083200 rs1014078023 |
539 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA200416225 rs191083204 |
541 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA5270926 rs368145523 |
545 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769167142 CA5270927 VAR_084194 |
545 | R>H | found in a patient with Sertoli cell-only syndrome; unknown pathological significance [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1588222103 CA375083477 |
548 | V>G | No |
ClinGen Ensembl |
|
|
CA5270928 rs772687061 |
548 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 549 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753446429 CA5270931 |
550 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270930 rs765803906 |
550 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224289195 CA375083524 |
551 | L>F | No |
ClinGen gnomAD |
|
|
rs1305786666 CA375083597 |
553 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1032985352 CA200416319 |
553 | S>N | No |
ClinGen TOPMed |
|
|
CA200416325 rs867670600 |
554 | N>S | No |
ClinGen gnomAD |
|
|
rs867670600 CA375083616 |
554 | N>T | No |
ClinGen gnomAD |
|
|
CA5270933 rs765200946 |
556 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375083723 rs1488154377 |
559 | P>S | No |
ClinGen gnomAD |
|
|
CA5270934 rs752652023 |
561 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA375083862 rs758129815 |
565 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5270935 rs758129815 |
565 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs539261555 CA5270939 |
568 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5270940 rs745998523 |
570 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA375084056 rs1047757022 |
574 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs913507858 CA200416376 |
575 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375084188 rs1405952781 |
580 | K>R | No |
ClinGen gnomAD |
|
|
CA5270944 rs769079264 |
582 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA375084245 rs1392615654 |
584 | L>P | No |
ClinGen TOPMed |
|
|
CA5270946 rs760232174 |
591 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1293889399 CA375084421 |
594 | T>I | No |
ClinGen gnomAD |
|
|
CA5270950 rs764739596 |
599 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs894653902 CA200416455 |
600 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA200416460 rs894653902 |
600 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA375084487 rs941064931 |
600 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA200416471 rs941064931 |
600 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763779931 CA5270953 |
605 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375084547 rs1425654431 |
605 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375084581 rs1588222541 |
608 | H>P | No |
ClinGen Ensembl |
|
|
rs757386567 CA5270955 |
613 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1230039796 CA375084689 |
619 | I>V | No |
ClinGen TOPMed |
|
|
CA375084699 rs1382074243 |
620 | D>N | No |
ClinGen gnomAD |
|
|
rs750699768 CA5270957 |
623 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs376835598 CA5270956 |
623 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200416521 rs970791377 |
624 | N>S | No |
ClinGen Ensembl |
|
|
rs756207612 CA5270958 |
625 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5270959 rs780289364 |
627 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA375084837 rs1588222680 |
628 | T>P | No |
ClinGen Ensembl |
|
|
CA375084890 rs373159505 |
629 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5270961 rs755600532 |
634 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA375085134 rs1588222711 |
637 | H>P | No |
ClinGen Ensembl |
|
|
rs75775253 CA200416553 |
639 | H>P | No |
ClinGen Ensembl |
|
|
CA5270963 rs748587126 |
640 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375085259 rs748587126 |
640 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144812013 CA200416568 |
650 | H>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5270964 rs772356896 |
650 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5270966 rs745522215 |
652 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411792663 CA375085689 |
654 | I>L | No |
ClinGen TOPMed |
|
|
rs1321876745 CA375085794 |
657 | Q>H | No |
ClinGen gnomAD |
|
|
CA5270971 rs541024052 |
658 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5270969 rs762850597 |
658 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761617108 CA5270972 |
659 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767232192 CA5270973 |
660 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375085934 rs1258382253 |
662 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
COSM1105759 rs1224174485 CA375086017 |
666 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1262085766 CA375086018 |
666 | R>H | No |
ClinGen gnomAD |
|
|
CA200416660 rs371206145 |
667 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375086071 rs1588222928 |
668 | Y>S | No |
ClinGen Ensembl |
|
|
CA375086137 rs1263152270 |
671 | R>C | No |
ClinGen gnomAD |
|
|
CA375086147 rs1436725780 |
671 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA200416670 rs77206964 |
673 | K>Q | No |
ClinGen Ensembl |
|
|
rs80281726 CA200416682 |
673 | K>T | No |
ClinGen Ensembl |
|
|
rs754020074 CA5270977 |
675 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1588222989 CA375086406 |
677 | I>T | No |
ClinGen Ensembl |
|
|
rs1428846685 CA375086427 |
678 | P>S | No |
ClinGen gnomAD |
|
|
CA5270979 rs779436649 RCV001342908 |
679 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
COSM1460356 rs748626839 CA5270980 |
679 | T>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA375086463 rs779436649 |
679 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs758721043 CA5270981 |
683 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA5270982 rs778176423 |
685 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356244793 CA375086680 |
685 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA375086711 rs1442654535 |
686 | K>R | No |
ClinGen gnomAD |
|
|
rs1277317984 CA375086734 |
687 | L>V | No |
ClinGen TOPMed |
|
|
CA200416802 rs1010618962 |
689 | Y>H | No |
ClinGen TOPMed |
|
|
rs745505829 CA5270983 |
689 | Y>S | No |
ClinGen ExAC |
|
|
rs769482006 CA5270984 |
691 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs748753154 CA5270986 |
692 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5270987 rs768070936 |
692 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA375086947 rs1564529277 |
694 | H>R | No |
ClinGen Ensembl |
|
|
CA375087003 rs1347084734 |
696 | N>S | No |
ClinGen TOPMed |
|
|
rs1283819888 CA375087062 |
698 | T>I | No |
ClinGen TOPMed |
|
|
rs1020284481 CA200416885 |
700 | L>F | No |
ClinGen TOPMed |
|
|
rs543790082 CA200416904 |
700 | L>P | No |
ClinGen 1000Genomes gnomAD |
|
|
rs868542806 CA200416922 |
701 | P>L | No |
ClinGen Ensembl |
|
|
CA5270991 rs773203371 |
703 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375087213 rs1201803467 |
704 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 704 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754146417 CA5270994 |
705 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs766749712 CA5270993 |
705 | G>S | Variant assessed as Somatic; 0.0006966 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753242085 CA5270997 |
709 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA375087381 rs1588223361 |
712 | N>T | No |
ClinGen Ensembl |
|
|
CA200417001 COSM1213925 rs985225559 |
716 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs751956650 COSM1213926 CA5271000 |
719 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5270999 rs145027705 |
719 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs759781334 | 720 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384385105 CA375091256 |
721 | E>* | No |
ClinGen gnomAD |
|
|
COSM290262 CA200423064 rs868086143 |
722 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5271031 rs769948961 |
723 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375091359 rs1471857895 |
725 | P>A | No |
ClinGen TOPMed |
|
|
CA5271032 rs775809202 |
725 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271034 rs764169809 |
726 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA375091486 rs1564533049 |
728 | F>C | No |
ClinGen Ensembl |
|
|
CA375091508 rs1261263035 |
729 | Q>* | No |
ClinGen gnomAD |
|
|
rs751995060 CA375091597 |
731 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751995060 CA5271035 |
731 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375091578 rs1182325605 |
731 | R>W | No |
ClinGen gnomAD |
|
|
CA5271037 rs767858656 |
732 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA375091645 rs1412241773 |
734 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754631786 CA5271039 |
737 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs140168683 CA5271038 |
737 | H>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5271042 rs757926178 |
739 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200423130 rs757926178 |
739 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375091776 rs757926178 |
739 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759696740 RCV001338726 |
742 | V>L | No |
ClinVar dbSNP |
|
|
rs759696740 CA5271044 |
742 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375091995 rs1284350700 |
745 | S>L | No |
ClinGen TOPMed |
|
|
CA5271046 rs781005769 |
747 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362644901 CA375092088 |
748 | S>P | No |
ClinGen TOPMed |
|
|
rs544964004 CA200423175 |
749 | R>G | No |
ClinGen TOPMed |
|
|
CA375092125 rs1346259653 |
749 | R>T | No |
ClinGen TOPMed |
|
|
rs200535573 CA5271049 |
752 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs749515686 CA5271050 |
754 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271051 rs768719966 |
755 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375092243 rs768719966 |
755 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM167899 CA5271052 rs557710052 |
757 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767950230 CA375092419 |
759 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271055 rs773803974 |
760 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA5271056 rs760903402 |
762 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs986158748 CA200423252 |
762 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA5271057 rs766782363 |
763 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766782363 CA375092513 |
763 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271059 rs377654430 |
765 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5271058 rs752227637 |
765 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5271060 rs763672970 |
766 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771624809 CA5271061 |
767 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs771624809 CA5271062 |
767 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs369716517 CA5271064 |
772 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5271065 rs531989271 |
773 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531989271 CA5271066 |
773 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271068 rs768916187 |
774 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271069 rs768916187 |
774 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5271072 rs773537614 |
775 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA5271071 rs146661687 |
775 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA375092807 rs1368883598 |
777 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 781 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5271074 COSM1105760 rs766650861 |
781 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA375092920 rs1270591318 |
781 | R>S | No |
ClinGen gnomAD |
|
|
rs373135213 CA5271076 |
783 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1588236172 CA375093036 |
785 | V>G | No |
ClinGen Ensembl |
|
|
rs763795899 CA5271077 |
785 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1351995459 CA375093093 |
787 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1162124161 CA375093070 |
787 | E>K | No |
ClinGen gnomAD |
|
|
rs761348206 CA5271079 |
791 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs767057883 CA5271080 |
791 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5271083 rs561567188 |
797 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375093371 rs1588236246 |
798 | V>G | No |
ClinGen Ensembl |
|
|
CA5271086 rs374629783 |
801 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5271085 rs371629774 |
801 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1258636055 COSM357785 CA375093565 |
803 | W>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA375093524 rs1214570653 |
803 | W>G | No |
ClinGen gnomAD |
|
|
CA375093529 rs1214570653 |
803 | W>R | No |
ClinGen gnomAD |
|
|
rs1588236306 CA375093571 |
804 | R>G | No |
ClinGen Ensembl |
|
|
CA375093668 rs1188712711 |
805 | A>S | No |
ClinGen gnomAD |
|
|
CA5271091 rs541442315 |
808 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375093766 rs1444496315 |
808 | E>K | No |
ClinGen gnomAD |
|
|
rs747449292 CA5271090 |
808 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406343187 CA375093804 |
809 | Q>E | No |
ClinGen gnomAD |
|
|
CA5271092 rs777304358 |
810 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759926958 CA5271093 |
810 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q8IWT6
[MIM: 613506]: Agammaglobulinemia 5, autosomal dominant (AGM5)
A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:14660746}. Note=The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.
Without disease ID
- A primary immunodeficiency characterized by profoundly low or absent serum antibodies and low or absent circulating B-cells due to an early block of B-cell development. Affected individuals develop severe infections in the first years of life. {ECO:0000269|PubMed:14660746}. Note=The disease is caused by variants affecting the gene represented in this entry. A chromosomal aberration involving LRRC8 has been found in a patient with congenital agammaglobulinemia. Translocation t(9;20)(q33.2;q12). The translocation truncates the LRRC8 gene, resulting in deletion of the eighth, ninth, and half of the seventh LRR domains.
3 regional properties for Q8IWT6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | 14-3-3 protein, conserved site | 48 - 58 | IPR023409-1 |
| conserved_site | 14-3-3 protein, conserved site | 220 - 239 | IPR023409-2 |
| domain | 14-3-3 domain | 8 - 251 | IPR023410 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell surface | The external part of the cell wall and/or plasma membrane. |
| integral component of lysosomal membrane | The component of the lysosome 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 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. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| cyclic-GMP-AMP transmembrane transporter activity | Enables the transfer of cyclic-GMP-AMP from one side of a membrane to the other. |
| identical protein binding | Binding to an identical protein or proteins. |
| 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. |
14 GO annotations of biological process
| Name | Definition |
|---|---|
| anion transmembrane transport | The process in which an anion is transported across a membrane. |
| anion transport | The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| aspartate transmembrane transport | The process in which aspartate is transported across a lipid bilayer, from one side of a membrane to the other. |
| cell volume homeostasis | Any process involved in maintaining the steady state of a cell's volume. The cell's volume refers to the three-dimensional space occupied by a cell. |
| 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. |
| chloride transmembrane transport | The process in which chloride is transported across a membrane. |
| 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. |
| positive regulation of insulin secretion | Any process that activates or increases the frequency, rate or extent of the regulated release of insulin. |
| positive regulation of myoblast differentiation | Any process that activates or increases the frequency, rate or extent of myoblast differentiation. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers. |
| pre-B cell differentiation | The process in which a precursor cell type acquires the specialized features of a pre-B cell. Pre-B cells follow the pro-B cell stage of immature B cell differentiation and undergo rearrangement of heavy chain V, D, and J gene segments. |
| protein hexamerization | The formation of a protein hexamer, a macromolecular structure consisting of six noncovalently associated identical or nonidentical subunits. |
| response to osmotic stress | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating an increase or decrease in the concentration of solutes outside the organism or cell. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| 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 |
| 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 |
| Q8R502 | Lrrc8c | Volume-regulated anion channel subunit LRRC8C | Mus musculus (Mouse) | PR |
| Q80WG5 | Lrrc8a | Volume-regulated anion channel subunit LRRC8A | 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 |
| MIPVTELRYF | ADTQPAYRIL | KPWWDVFTDY | ISIVMLMIAV | FGGTLQVTQD | KMICLPCKWV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TKDSCNDSFR | GWAAPGPEPT | YPNSTILPTP | DTGPTGIKYD | LDRHQYNYVD | AVCYENRLHW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FAKYFPYLVL | LHTLIFLACS | NFWFKFPRTS | SKLEHFVSIL | LKCFDSPWTT | RALSETVVEE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SDPKPAFSKM | NGSMDKKSST | VSEDVEATVP | MLQRTKSRIE | QGIVDRSETG | VLDKKEGEQA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KALFEKVKKF | RTHVEEGDIV | YRLYMRQTII | KVIKFILIIC | YTVYYVHNIK | FDVDCTVDIE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLTGYRTYRC | AHPLATLFKI | LASFYISLVI | FYGLICMYTL | WWMLRRSLKK | YSFESIREES |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SYSDIPDVKN | DFAFMLHLID | QYDPLYSKRF | AVFLSEVSEN | KLRQLNLNNE | WTLDKLRQRL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TKNAQDKLEL | HLFMLSGIPD | TVFDLVELEV | LKLELIPDVT | IPPSIAQLTG | LKELWLYHTA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AKIEAPALAF | LRENLRALHI | KFTDIKEIPL | WIYSLKTLEE | LHLTGNLSAE | NNRYIVIDGL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RELKRLKVLR | LKSNLSKLPQ | VVTDVGVHLQ | KLSINNEGTK | LIVLNSLKKM | ANLTELELIR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| CDLERIPHSI | FSLHNLQEID | LKDNNLKTIE | EIISFQHLHR | LTCLKLWYNH | IAYIPIQIGN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LTNLERLYLN | RNKIEKIPTQ | LFYCRKLRYL | DLSHNNLTFL | PADIGLLQNL | QNLAITANRI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ETLPPELFQC | RKLRALHLGN | NVLQSLPSRV | GELTNLTQIE | LRGNRLECLP | VELGECPLLK |
| 790 | 800 | ||||
| RSGLVVEEDL | FNTLPPEVKE | RLWRADKEQA |