Q8WVZ9
PR
Gene name |
KBTBD7 |
Protein name |
Kelch repeat and BTB domain-containing protein 7 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84078 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8WVZ9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8WVZ9-F1 | Predicted | AlphaFoldDB |
470 variants for Q8WVZ9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs748092018 CA6961291 RCV000240138 |
403 | K>T | Oromandibular-limb hypogenesis spectrum [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000239815 rs754048481 CA10586329 |
499 | P>R | Oromandibular-limb hypogenesis spectrum [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs907671722 CA248415532 |
2 | Q>R | No |
ClinGen TOPMed |
|
|
rs1421337220 CA387934572 |
3 | S>F | No |
ClinGen gnomAD |
|
|
CA6961490 rs781539031 |
3 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA387934576 rs781539031 |
3 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6961487 rs559788858 |
4 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747096243 CA6961488 |
4 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1452236842 CA387934541 |
6 | D>G | No |
ClinGen gnomAD |
|
|
rs1452236842 CA387934540 |
6 | D>V | No |
ClinGen gnomAD |
|
|
rs754991686 CA6961486 |
7 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387934527 rs1328763884 |
8 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6961485 rs753879789 |
8 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328763884 CA387934526 |
8 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6961484 rs779686895 |
9 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs930494734 CA248415520 |
10 | S>C | No |
ClinGen TOPMed |
|
|
rs1319845165 CA387934501 |
11 | R>G | No |
ClinGen gnomAD |
|
|
CA387934478 rs1217486813 |
13 | L>H | No |
ClinGen TOPMed |
|
|
rs1217486813 CA387934476 |
13 | L>P | No |
ClinGen TOPMed |
|
|
rs201264753 CA387934471 |
14 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201264753 CA6961480 |
14 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201264753 CA6961481 |
14 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237377455 CA387934458 |
15 | S>N | No |
ClinGen TOPMed |
|
|
rs763427824 CA6961477 |
17 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs776104024 CA6961476 |
18 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486424149 CA387934432 |
18 | G>S | No |
ClinGen TOPMed |
|
|
CA387934424 rs765511218 |
19 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765511218 CA6961475 |
19 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961474 rs760000000 |
20 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA387934369 rs1164634523 |
24 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA248415505 rs200197351 |
25 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1387399594 CA387934348 |
26 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA387934344 rs1358495655 |
26 | S>Y | No |
ClinGen TOPMed |
|
|
CA387934333 rs1464605521 |
27 | K>R | No |
ClinGen gnomAD |
|
|
rs1593479831 CA387934322 |
28 | P>L | No |
ClinGen Ensembl |
|
|
rs779379416 CA6961472 |
29 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779379416 CA6961471 |
29 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387934316 rs1398952711 |
29 | S>T | No |
ClinGen TOPMed |
|
|
rs1216944316 CA387934303 |
31 | S>T | No |
ClinGen TOPMed |
|
|
rs773406283 CA6961470 |
32 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387934277 rs1218402704 |
33 | F>S | No |
ClinGen TOPMed |
|
|
CA6961467 rs780098086 |
34 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6961466 rs755808984 |
35 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA387934245 rs1488106456 |
36 | G>D | No |
ClinGen TOPMed |
|
|
CA6961465 rs745682411 |
36 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387934217 rs1227465112 |
39 | E>K | No |
ClinGen gnomAD |
|
|
rs1031566137 CA248415490 |
43 | T>M | No |
ClinGen TOPMed |
|
|
CA387934160 rs1384739061 |
44 | A>S | No |
ClinGen gnomAD |
|
|
CA387934146 rs1389339903 |
45 | H>L | No |
ClinGen gnomAD |
|
|
CA6961462 rs751261046 |
47 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 47 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs944952621 CA248415487 |
48 | A>P | No |
ClinGen Ensembl |
|
|
rs370755143 CA248415485 |
48 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs753127305 CA6961459 |
50 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387934106 rs753127305 |
50 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387934099 rs1167099415 |
51 | A>T | No |
ClinGen gnomAD |
|
|
CA387934092 rs1449280977 |
51 | A>V | No |
ClinGen gnomAD |
|
|
CA248415480 rs904052806 |
52 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1272988852 CA387934060 |
54 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1195529570 CA387934034 |
56 | F>L | No |
ClinGen gnomAD |
|
| rs1418828287 | 56 | F>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303431535 CA387934023 |
57 | Y>C | No |
ClinGen TOPMed |
|
|
CA248415477 rs554273647 |
58 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 58 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6961455 rs777079645 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760952920 CA6961453 |
60 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248415471 rs989551912 |
63 | C>W | No |
ClinGen gnomAD |
|
|
CA387933934 rs1245443972 |
65 | V>A | No |
ClinGen gnomAD |
|
|
CA387933939 rs773639482 |
65 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs773639482 CA6961452 |
65 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA387933041 rs1593479668 |
70 | V>G | No |
ClinGen Ensembl |
|
|
CA387933047 rs1301349324 |
70 | V>L | No |
ClinGen gnomAD |
|
|
rs1299660947 CA387933030 |
71 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1306767623 CA387933020 |
72 | P>R | No |
ClinGen gnomAD |
|
|
CA387933027 rs1353835613 |
72 | P>S | No |
ClinGen gnomAD |
|
|
rs775225004 CA6961449 |
74 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs147053425 CA387932996 |
74 | S>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs537896766 CA6961448 |
74 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745598278 CA6961447 |
75 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA387932993 rs1377342001 |
75 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA387932986 rs1450020925 |
76 | P>L | No |
ClinGen TOPMed |
|
|
rs780941032 CA6961446 |
78 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs757083295 CA6961445 |
80 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA387932956 rs757083295 |
80 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1593479611 CA387932951 |
81 | L>P | No |
ClinGen Ensembl |
|
|
rs777455910 CA6961443 |
82 | F>I | No |
ClinGen ExAC |
|
|
rs1162385525 CA387932930 |
84 | C>* | No |
ClinGen gnomAD |
|
|
CA6961442 rs757841814 |
87 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761184456 CA6961436 |
99 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 100 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6961434 rs767857401 |
107 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA387932756 rs1438917079 |
109 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6961433 rs761760607 |
111 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774509202 CA6961432 |
112 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6961431 COSM1366904 rs768665690 |
113 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA248415435 rs528611716 |
113 | T>S | No |
ClinGen TOPMed |
|
|
rs759485572 CA6961430 |
114 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770048366 CA248415432 |
115 | H>D | No |
ClinGen Ensembl |
|
|
CA6961427 rs746817127 |
119 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387932686 rs1326644621 |
120 | E>* | No |
ClinGen gnomAD |
|
|
rs1266872986 CA387932683 |
120 | E>A | No |
ClinGen gnomAD |
|
|
CA6961426 rs777337719 |
121 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961425 rs771785270 |
122 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA387932655 rs1593479512 |
124 | V>G | No |
ClinGen Ensembl |
|
|
rs778457650 CA6961423 |
124 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778457650 CA6961424 |
124 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs930485184 CA248415421 |
127 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 131 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780720565 CA6961421 |
131 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780720565 CA6961420 |
131 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA248415415 rs1042668812 |
133 | R>H | No |
ClinGen Ensembl |
|
|
CA6961419 rs756481314 |
133 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA387932595 rs750850997 |
134 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961418 rs750850997 |
134 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961417 rs767801516 |
136 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6961415 rs751767633 |
139 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6961414 rs751767633 |
139 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6961413 rs373095617 |
140 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6961412 rs373095617 |
140 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6961410 rs770856296 |
141 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA248415400 rs1053796430 |
142 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA387932534 rs1593479449 |
144 | L>Q | No |
ClinGen Ensembl |
|
|
rs1236353190 CA387932523 |
146 | A>S | No |
ClinGen TOPMed |
|
|
rs1236353190 CA387932521 |
146 | A>T | No |
ClinGen TOPMed |
|
|
CA387932505 rs771805383 |
149 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961407 rs771805383 |
149 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316151941 CA387932464 |
154 | E>D | No |
ClinGen gnomAD |
|
|
CA387932432 rs1183982729 |
159 | A>G | No |
ClinGen TOPMed |
|
|
CA387932429 rs1363247510 |
160 | C>R | No |
ClinGen gnomAD |
|
|
CA387932423 rs1238949632 |
160 | C>W | No |
ClinGen TOPMed |
|
|
rs778491707 CA6961405 |
161 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1431784081 CA387932412 |
162 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 165 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs559318355 CA6961404 |
166 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6961403 rs748813079 |
166 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6961402 rs780667713 |
167 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1366902 rs1165236874 CA387932385 |
167 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs746423977 CA6961400 |
172 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593479352 CA387932342 |
174 | T>P | No |
ClinGen Ensembl |
|
|
rs538150416 CA248415382 |
175 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1211386 CA6961397 rs538150416 |
175 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA248415380 rs369326188 |
176 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1220259344 CA387932322 |
177 | L>P | No |
ClinGen gnomAD |
|
|
rs764230895 CA6961396 |
179 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387932295 rs1339115077 |
181 | D>G | No |
ClinGen TOPMed |
|
|
CA387932290 rs375426218 |
182 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA248415375 rs375426218 |
182 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387932275 rs1301976418 |
184 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs766253413 COSM947434 CA6961393 |
184 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6961392 rs760576261 |
186 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA387932250 rs1215320429 |
187 | K>N | No |
ClinGen gnomAD |
|
|
rs773202669 CA387932239 |
189 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961391 rs773202669 |
189 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA248415369 rs970609757 |
195 | Y>H | No |
ClinGen Ensembl |
|
|
rs1346036222 CA387932193 |
196 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA387932183 rs1186578862 |
198 | H>D | No |
ClinGen TOPMed |
|
|
rs761527479 CA6961389 |
198 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6961388 rs768228188 |
200 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961387 rs768228188 |
200 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 204 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387932132 rs1369644099 |
205 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA248415362 rs748762082 |
205 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961386 rs748762082 |
205 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144085627 CA387932128 |
206 | M>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs144085627 CA248415357 |
206 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376424338 CA6961384 |
206 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6961383 rs140325020 |
208 | S>A | No |
ClinGen ESP ExAC TOPMed |
|
|
CA387932111 rs1480504441 |
209 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs757579624 CA6961381 |
210 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961382 rs567083359 |
210 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373125023 CA248415352 |
211 | E>D | No |
ClinGen ESP TOPMed |
|
|
CA6961380 rs747339046 |
213 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6961378 rs758640332 |
215 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387932073 rs758640332 |
215 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750318067 CA6961373 |
220 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA248415341 rs147461519 |
220 | A>V | No |
ClinGen 1000Genomes |
|
|
rs761633195 CA6961371 |
222 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA6961368 rs567793688 |
227 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1203226053 CA387931975 |
232 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1316236576 CA387931966 |
233 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1226719683 CA387931968 |
233 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6961363 rs771371956 |
233 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6961362 rs747348724 |
234 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs201005328 CA248415323 |
234 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777976036 CA6961361 |
234 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1593479123 CA387931957 |
235 | S>N | No |
ClinGen Ensembl |
|
|
CA6961360 rs772494547 |
236 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366423606 CA387931941 |
237 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA248415319 rs890660024 |
239 | V>A | No |
ClinGen Ensembl |
|
|
rs748358461 CA6961359 |
239 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779122641 CA6961358 |
241 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309846186 CA387931894 |
242 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1221810453 CA387931883 |
243 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1407923076 CA387931866 |
245 | Q>* | No |
ClinGen gnomAD |
|
|
rs781138818 CA6961355 |
248 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs757123624 CA6961354 |
251 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387931758 rs1421430967 |
253 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1421430967 CA387931760 |
253 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs200432877 CA248415309 |
254 | R>W | No |
ClinGen gnomAD |
|
|
rs751558131 CA6961353 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387931682 rs1445459038 |
260 | E>Q | No |
ClinGen gnomAD |
|
|
rs763974296 CA6961352 |
263 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA248415302 rs938073041 |
263 | K>N | No |
ClinGen Ensembl |
|
|
rs762895578 CA6961351 |
264 | C>W | No |
ClinGen ExAC gnomAD |
|
|
COSM1211388 rs752335681 CA6961350 |
265 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA387931601 rs752335681 |
265 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs552332866 CA248415299 |
265 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs764981841 CA6961349 COSM947433 |
266 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6961348 rs759045724 |
266 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142092033 CA6961347 |
268 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387931545 rs1158349431 |
269 | H>Q | No |
ClinGen TOPMed |
|
|
rs148638355 CA6961346 |
269 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761053453 CA6961345 |
271 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA387931519 rs1566247549 |
272 | E>K | No |
ClinGen Ensembl |
|
|
rs773830121 CA6961344 |
273 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA387931462 rs772366738 |
276 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772366738 CA6961343 |
276 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1290121552 CA609926519 |
277 | Y>* | No |
ClinGen gnomAD |
|
|
rs749577628 CA6961339 |
288 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA387931252 rs1363395114 |
292 | L>P | No |
ClinGen gnomAD |
|
|
CA387931228 rs1291001772 |
294 | V>D | No |
ClinGen gnomAD |
|
|
CA6961335 rs751435876 |
294 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387931214 rs1390155270 |
295 | I>T | No |
ClinGen TOPMed |
|
|
rs1057313905 CA248415277 |
297 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1566247473 CA387931163 |
300 | Q>* | No |
ClinGen Ensembl |
|
|
rs375645648 CA6961334 |
302 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272248871 CA387931122 |
302 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs530969830 CA6961332 |
303 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA387931116 rs1237693407 |
303 | Y>H | No |
ClinGen TOPMed |
|
|
rs562421270 CA6961331 |
304 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA387931077 rs1384607721 |
306 | L>M | No |
ClinGen gnomAD |
|
|
CA387931074 rs1344146598 |
306 | L>P | No |
ClinGen gnomAD |
|
|
CA6961330 rs759087042 |
307 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6961329 rs753566025 |
308 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387931018 rs1246482488 |
310 | S>F | No |
ClinGen TOPMed |
|
|
rs143869432 CA6961328 |
311 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA387931014 rs1263293760 |
311 | L>V | No |
ClinGen TOPMed |
|
|
rs1373924315 CA387930988 |
313 | P>L | No |
ClinGen gnomAD |
|
|
CA387930984 rs1431563381 |
314 | V>L | No |
ClinGen gnomAD |
|
|
CA6961326 rs773642846 |
316 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6961324 rs552076358 |
321 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA248415260 rs963732746 |
321 | S>I | No |
ClinGen Ensembl |
|
|
rs200052052 CA6961320 |
322 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769051197 CA6961319 |
324 | S>R | No |
ClinGen ExAC TOPMed |
|
|
CA6961317 rs369886673 |
325 | N>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs775836259 CA6961316 |
326 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs769702322 CA6961315 |
327 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 327 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444417401 CA387930764 |
328 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA387930720 rs1230633709 |
331 | A>E | No |
ClinGen gnomAD |
|
|
CA387930650 rs1283365495 |
335 | P>H | No |
ClinGen gnomAD |
|
|
rs1283365495 CA387930653 |
335 | P>R | No |
ClinGen gnomAD |
|
|
CA248415247 rs199875924 |
336 | Q>P | No |
ClinGen Ensembl |
|
|
rs1263870965 CA387930603 |
338 | L>M | No |
ClinGen gnomAD |
|
|
CA248415245 rs986602215 |
340 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA387930503 rs1347999783 |
342 | A>T | No |
ClinGen gnomAD |
|
|
CA6961314 rs745961864 |
343 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM187913 rs777809017 CA6961313 |
344 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs377136386 CA248415241 |
344 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs559927272 CA6961312 |
346 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748144890 CA6961311 |
348 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA248415234 rs955044292 |
348 | F>L | No |
ClinGen Ensembl |
|
|
CA248415235 rs200575132 |
348 | F>S | No |
ClinGen 1000Genomes |
|
|
rs1428603348 CA387930308 |
349 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778817866 CA6961309 |
350 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA248415228 rs2039135 |
351 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA387930142 rs1438135567 |
358 | C>Y | No |
ClinGen gnomAD |
|
|
rs766061928 CA6961306 |
359 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148326074 CA6961305 |
360 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1180471258 CA387930092 |
361 | P>H | No |
ClinGen TOPMed |
|
|
CA248415219 rs1002146520 |
361 | P>T | No |
ClinGen Ensembl |
|
|
rs749958904 CA6961304 |
362 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961302 rs144113848 |
363 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 366 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262306846 CA387929975 |
369 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1278347495 CA387929944 |
371 | S>T | No |
ClinGen gnomAD |
|
|
rs1227995883 CA387929923 COSM215564 |
372 | P>R | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1465140254 CA387929894 |
376 | F>L | No |
ClinGen TOPMed |
|
|
CA387929887 rs1238990845 |
377 | A>V | No |
ClinGen gnomAD |
|
|
CA6961301 COSM469431 rs762281112 |
378 | H>N | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 378 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405702681 CA387929872 |
380 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs775505486 CA6961296 |
381 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6961297 rs763387811 |
381 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs140042626 CA6961294 |
383 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6961295 rs140042626 |
383 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300805327 CA387929837 |
386 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 386 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776829588 CA6961293 |
392 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs771172832 CA6961292 |
399 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1309193629 CA387929750 |
399 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 402 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1204993837 CA387929699 |
406 | W>* | No |
ClinGen gnomAD |
|
|
CA387929694 rs1282982564 |
407 | V>G | No |
ClinGen gnomAD |
|
|
CA6961290 rs779009650 |
407 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs199587576 CA248415195 |
408 | Y>N | No |
ClinGen 1000Genomes |
|
|
rs1379411108 CA387929681 |
409 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs539348551 CA6961289 |
409 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368081300 CA6961287 |
412 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1281625126 CA387929642 |
415 | W>R | No |
ClinGen gnomAD |
|
|
rs755773507 CA6961286 |
416 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs147511421 CA248415185 |
418 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA387929603 rs1382278511 |
420 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 420 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750120879 CA6961285 COSM261488 |
421 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs767012238 CA6961284 |
422 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs573427704 CA6961282 |
428 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1161411714 CA387929535 |
430 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA387929539 rs1387130595 |
430 | V>M | No |
ClinGen gnomAD |
|
|
CA6961281 rs764665368 |
431 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385663301 CA387929508 |
434 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387929506 rs1450050353 |
435 | G>S | No |
ClinGen gnomAD |
|
|
CA6961279 rs753123815 |
436 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1477576005 CA387929493 |
437 | I>L | No |
ClinGen TOPMed |
|
|
CA387929451 rs1448079139 |
443 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA387929452 rs1448079139 |
443 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1220930184 CA387929421 |
447 | T>I | No |
ClinGen gnomAD |
|
|
CA6961275 rs200426275 |
449 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200426275 CA6961274 |
449 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269665204 CA387929378 |
454 | V>M | No |
ClinGen gnomAD |
|
|
CA6961271 rs749233769 |
456 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA387929312 rs1358223699 |
459 | V>D | No |
ClinGen TOPMed |
|
|
CA248415162 rs200085729 |
460 | Q>K | No |
ClinGen Ensembl |
|
|
rs1301168968 CA387929293 |
461 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387929276 rs1404294189 |
462 | N>D | No |
ClinGen gnomAD |
|
|
rs886906156 CA248415160 |
462 | N>K | No |
ClinGen Ensembl |
|
|
rs769547529 CA387929188 |
468 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs769547529 CA6961269 |
468 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1056882204 CA248415156 |
469 | P>L | No |
ClinGen TOPMed |
|
|
rs1217935782 CA387929161 |
471 | P>S | No |
ClinGen TOPMed |
|
|
rs934412066 COSM3955594 CA248415154 |
474 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs934412066 CA387929141 |
474 | F>V | No |
ClinGen TOPMed |
|
|
COSM696567 CA6961267 rs780838807 |
476 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1043132326 CA248415148 |
480 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1185606138 CA387929096 |
480 | I>T | No |
ClinGen gnomAD |
|
|
rs751097621 CA6961265 |
480 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490332618 CA387929090 |
481 | V>A | No |
ClinGen gnomAD |
|
|
CA387929081 rs1224322568 |
483 | Q>E | No |
ClinGen gnomAD |
|
|
CA387929060 rs1305951594 |
485 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA387929044 rs1215406427 |
488 | A>T | No |
ClinGen gnomAD |
|
|
CA248415145 rs71427468 |
490 | N>T | No |
ClinGen Ensembl |
|
|
rs765627949 CA6961261 |
493 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs975357841 CA248415142 |
494 | M>R | No |
ClinGen Ensembl |
|
| TCGA novel | 496 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160160804 CA387928982 |
497 | Y>N | No |
ClinGen TOPMed |
|
|
rs754048481 CA6961259 |
499 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6961260 rs760035283 |
499 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs766741608 CA6961258 |
501 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA387928942 rs1175156242 |
502 | N>K | No |
ClinGen gnomAD |
|
|
CA248415135 rs975024912 |
503 | M>I | No |
ClinGen TOPMed |
|
|
CA387928940 rs1480391510 |
503 | M>V | No |
ClinGen gnomAD |
|
|
rs1430658994 CA387928926 |
504 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201439264 CA6961255 |
510 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6961253 rs762947676 |
512 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1205409399 CA387928875 |
512 | R>H | No |
ClinGen gnomAD |
|
|
CA387928873 rs1205409399 |
512 | R>L | No |
ClinGen gnomAD |
|
|
rs1566246971 CA387928872 |
513 | S>R | No |
ClinGen Ensembl |
|
|
CA387928847 rs1293516814 |
516 | Q>E | No |
ClinGen TOPMed |
|
|
rs199565482 CA248415127 |
522 | N>K | No |
ClinGen 1000Genomes |
|
|
rs912049748 CA248415125 |
523 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA387928788 rs1223056533 |
524 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324146582 CA387928781 |
525 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200596787 CA6961251 |
526 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780781349 CA6961249 |
529 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA6961247 rs746686863 |
531 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987539481 CA248415118 |
533 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 540 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777304885 CA6961246 |
540 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA387928667 rs1335452318 |
541 | R>M | No |
ClinGen gnomAD |
|
|
CA6961245 rs757912355 |
542 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA387928633 rs189507322 |
546 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6961242 rs189507322 |
546 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149586667 CA6961244 COSM167824 |
546 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1417863739 CA387928624 |
548 | S>G | No |
ClinGen gnomAD |
|
|
rs143229144 CA248415111 |
552 | L>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1333909521 CA387928563 |
556 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA387928556 rs1178198294 |
557 | H>Q | No |
ClinGen gnomAD |
|
|
CA387928545 rs1441774026 |
559 | Y>H | No |
ClinGen gnomAD |
|
|
rs754279461 CA6961241 |
560 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766900063 CA6961240 |
561 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs756374974 CA6961239 |
563 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961237 rs767626198 |
565 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs775435165 CA6961235 |
574 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1354497892 CA387928440 |
574 | T>R | No |
ClinGen Ensembl |
|
|
CA248415100 rs367793070 |
575 | T>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1313862844 CA387928434 |
575 | T>I | No |
ClinGen gnomAD |
|
|
rs765186943 CA6961234 |
576 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA248415095 rs267603825 |
578 | W>* | No |
ClinGen Ensembl |
|
|
CA6961232 rs776384669 |
578 | W>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746669542 CA6961230 COSM1255212 |
582 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6961229 rs772795656 |
582 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA387928386 rs1345187869 |
583 | V>M | No |
ClinGen gnomAD |
|
|
CA6961226 rs779515656 |
587 | E>K | No |
ClinGen ExAC |
|
|
CA6961225 rs566479998 |
588 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1593478149 CA387928351 |
588 | Y>D | No |
ClinGen Ensembl |
|
|
rs749853145 CA6961224 |
590 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1376695059 CA387928333 |
591 | R>G | No |
ClinGen TOPMed |
|
|
CA6961222 rs780565214 |
591 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA248415077 rs1022831976 |
592 | E>V | No |
ClinGen TOPMed |
|
|
CA387928319 rs1184921089 |
593 | D>N | No |
ClinGen gnomAD |
|
|
CA6961221 rs756498539 |
595 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6961220 rs368581328 |
596 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546471033 CA387928279 |
598 | I>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA248415072 rs546471033 |
598 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs757317253 CA6961218 |
599 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA6961216 rs764202832 |
601 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387928248 rs1292817161 |
603 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759435262 CA6961215 |
604 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA387928225 rs1256052412 |
606 | Q>H | No |
ClinGen TOPMed |
|
|
rs776615811 CA6961213 |
610 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961212 rs529924556 |
612 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1163406703 CA387928182 |
613 | C>G | No |
ClinGen gnomAD |
|
|
CA6961211 rs374359835 |
614 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6961210 rs374359835 |
614 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1566246749 CA387928163 |
616 | A>T | No |
ClinGen Ensembl |
|
|
CA6961209 rs560790512 |
617 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs560790512 CA387928156 |
617 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138237266 CA6961208 |
617 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370708644 CA248415054 |
620 | P>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA248415051 rs746113363 |
624 | E>* | No |
ClinGen Ensembl |
|
|
CA6961203 rs780724672 |
625 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA387928060 rs1186645455 |
625 | P>T | No |
ClinGen TOPMed |
|
|
CA387928042 rs1423768669 |
626 | G>D | No |
ClinGen TOPMed |
|
|
CA248415046 rs200452472 |
626 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1478505964 CA387927978 |
631 | T>N | No |
ClinGen TOPMed |
|
|
rs1307497138 CA387927970 |
632 | E>K | No |
ClinGen gnomAD |
|
|
rs1396410608 CA387927949 |
633 | E>Q | No |
ClinGen TOPMed |
|
|
rs1566246686 CA387927925 |
634 | D>H | No |
ClinGen Ensembl |
|
|
CA387927868 rs1182228163 |
636 | A>S | No |
ClinGen gnomAD |
|
|
CA387927862 rs1420692048 |
636 | A>V | No |
ClinGen gnomAD |
|
|
rs758529155 CA6961196 |
637 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777821993 CA6961197 |
637 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA387927801 rs1461678191 |
641 | S>N | No |
ClinGen gnomAD |
|
|
CA387927792 rs1342501925 |
642 | T>P | No |
ClinGen TOPMed |
|
|
rs1276301198 CA387927764 |
644 | W>* | No |
ClinGen TOPMed |
|
|
CA387927762 rs1276301198 |
644 | W>L | No |
ClinGen TOPMed |
|
|
rs1248182514 CA387927733 |
646 | L>S | No |
ClinGen gnomAD |
|
|
rs760470403 CA6961193 |
648 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 653 | D>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 654 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA387927664 rs1195106139 |
655 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA387927663 rs1195106139 |
655 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750163388 CA6961191 |
655 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA387927647 rs1428563706 |
657 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6961190 rs767387311 |
660 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6961188 rs774208807 |
662 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA6961189 rs774208807 |
662 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA248415023 rs879778001 |
664 | D>N | No |
ClinGen gnomAD |
|
|
CA387927579 rs1480787176 |
665 | D>G | No |
ClinGen gnomAD |
|
|
rs762562083 CA6961186 |
666 | E>D | No |
ClinGen ExAC TOPMed |
|
|
CA6961184 rs763229189 |
669 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961185 rs776104641 |
669 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6961182 rs781378195 |
673 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6961183 rs746432437 |
673 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1234640241 CA387927476 |
674 | Q>* | No |
ClinGen gnomAD |
|
|
CA387927461 rs1333119959 |
675 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1333119959 CA387927463 |
675 | R>G | No |
ClinGen gnomAD |
|
|
rs887220184 CA387927458 |
675 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs887220184 CA248415014 |
675 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1401389295 CA387927407 |
679 | D>G | No |
ClinGen gnomAD |
|
|
rs771390802 CA6961181 |
679 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566246539 CA387927385 |
681 | Q>* | No |
ClinGen Ensembl |
|
|
CA248415010 rs776748093 |
682 | G>D | No |
ClinGen Ensembl |
|
|
rs1299092354 CA387927367 |
682 | G>R | No |
ClinGen TOPMed |
|
|
rs564875364 CA6961180 |
683 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372809519 CA6961179 |
684 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q8WVZ9
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Cul3-RING ubiquitin ligase complex | A ubiquitin ligase complex in which a cullin from the Cul3 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a BTB-domain-containing protein. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| regulation of Rac protein signal transduction | Any process that modulates the frequency, rate or extent of Rac protein signal transduction. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQSREDVPRS | RRLASPRGGR | RPKRISKPSV | SAFFTGPEEL | KDTAHSAALL | AQLKSFYDAR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLCDVTIEVV | TPGSGPGTGR | LFSCNRNVLA | AACPYFKSMF | TGGMYESQQA | SVTMHDVDAE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SFEVLVDYCY | TGRVSLSEAN | VQRLYAASDM | LQLEYVREAC | ASFLARRLDL | TNCTAILKFA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DAFDHHKLRS | QAQSYIAHNF | KQLSRMGSIR | EETLADLTLA | QLLAVLRLDS | LDIESERTVC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HVAVQWLEAA | AKERGPSAAE | VFKCVRWMHF | TEEDQDYLEG | LLTKPIVKKY | CLDVIEGALQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MRYGDLLYKS | LVPVPNSSSS | SSSSNSLVSA | AENPPQRLGM | CAKEMVIFFG | HPRDPFLCYD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PYSGDIYTMP | SPLTSFAHTK | TVTSSAVCVS | PDHDIYLAAQ | PRKDLWVYKP | AQNSWQQLAD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLLCREGMDV | AYLNGYIYIL | GGRDPITGVK | LKEVECYSVQ | RNQWALVAPV | PHSFYSFELI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VVQNYLYAVN | SKRMLCYDPS | HNMWLNCASL | KRSDFQEACV | FNDEIYCICD | IPVMKVYNPA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RGEWRRISNI | PLDSETHNYQ | IVNHDQKLLL | ITSTTPQWKK | NRVTVYEYDT | REDQWINIGT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MLGLLQFDSG | FICLCARVYP | SCLEPGQSFI | TEEDDARSES | STEWDLDGFS | ELDSESGSSS |
| 670 | 680 | ||||
| SFSDDEVWVQ | VAPQRNAQDQ | QGSL |