P15498
Gene name |
VAV1 (VAV) |
Protein name |
Proto-oncogene vav |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7409 |
EC number |
|
Protein Class |
PROTEIN VAV (PTHR45818) |

Descriptions
The Vav family is a group of tyrosine phosphorylation-dependent guanine nucleotide exchange factors (GEFs) that activate members of the Rac and Rho families of guanosine triphosphatases (GTPases) downstream of protein tyrosine kinases. When the tyrosine residues within the AC region are non-phosphorylated, the CH domain and Ac region occlude the GTPase-binding site within DH domain. The interaction is stabilized by the interaction between the hydroxyl group of Tyr174 within Ac region and GTPase binding site as well as the interaction between CH domain and DH-PH domains. The Y174F mutant displays constitutive and phosphorylation-independent catalytic activity.
Autoinhibitory domains (AIDs)
Target domain |
194-373 (DH domain) |
Relief mechanism |
PTM |
Assay |
Deletion assay, Structural analysis, Mutagenesis experiment |
Target domain |
194-373 (DH domain) |
Relief mechanism |
PTM |
Assay |
Mutagenesis experiment, Deletion assay, Structural analysis |
Target domain |
194-373 (DH domain) |
Relief mechanism |
Partner binding, PTM |
Assay |
, Structural analysis |
Accessory elements
No accessory elements
References
- Barreira M et al. (2014) "The C-terminal SH3 domain contributes to the intramolecular inhibition of Vav family proteins", Science signaling, 7, ra35
- Rapley J et al. (2008) "Crucial structural role for the PH and C1 domains of the Vav1 exchange factor", EMBO reports, 9, 655-61
- Yu B et al. (2010) "Structural and energetic mechanisms of cooperative autoinhibition and activation of Vav1", Cell, 140, 246-56
- Aghazadeh B et al. (2000) "Structural basis for relief of autoinhibition of the Dbl homology domain of proto-oncogene Vav by tyrosine phosphorylation", Cell, 102, 625-33
Autoinhibited structure

Activated structure

10 structures for P15498
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
2CRH | NMR | - | A | 629-775 | PDB |
2LCT | NMR | - | A | 664-767 | PDB |
2MC1 | NMR | - | A | 664-767 | PDB |
2ROR | NMR | - | A | 629-775 | PDB |
3BJI | X-ray | 260 A | A/B | 189-565 | PDB |
3KY9 | X-ray | 273 A | A/B | 2-584 | PDB |
6NEW | X-ray | 250 A | A | 170-575 | PDB |
6NF1 | X-ray | 260 A | A | 2-575 | PDB |
6NFA | X-ray | 270 A | A | 170-575 | PDB |
AF-P15498-F1 | Predicted | AlphaFoldDB |
460 variants for P15498
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1358155015 CA403647520 |
2 | E>* | No |
ClinGen gnomAD |
|
rs944033950 CA304812496 |
5 | R>H | No |
ClinGen TOPMed gnomAD |
|
rs1489564674 CA403647629 |
8 | T>S | No |
ClinGen gnomAD |
|
rs1599606651 CA403647641 |
9 | H>P | No |
ClinGen Ensembl |
|
CA304812510 rs977000607 |
9 | H>Q | No |
ClinGen Ensembl |
|
CA9132092 rs777064585 |
13 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA9132094 rs373948131 |
15 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA304812536 rs1054377673 |
18 | P>S | No |
ClinGen TOPMed |
|
rs1599606734 CA403647880 |
24 | T>S | No |
ClinGen Ensembl |
|
rs1191997621 CA403647898 |
26 | D>N | No |
ClinGen TOPMed |
|
rs947824219 CA304812558 |
27 | G>A | No |
ClinGen TOPMed |
|
CA403647986 rs1195928000 |
31 | C>S | No |
ClinGen TOPMed |
|
CA9132102 rs753758099 |
36 | A>T | No |
ClinGen ExAC gnomAD |
|
CA403648109 rs1568276930 |
38 | R>Q | No |
ClinGen Ensembl |
|
CA403648105 rs1310819086 |
38 | R>W | No |
ClinGen gnomAD |
|
CA403648186 rs1209276397 |
45 | Q>H | No |
ClinGen TOPMed |
|
CA403648247 rs1371201347 |
49 | N>S | No |
ClinGen gnomAD |
|
CA403648246 rs1371201347 |
49 | N>T | No |
ClinGen gnomAD |
|
rs768101725 CA9132109 |
53 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199610931 CA403648402 |
57 | L>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA403648411 rs1240166735 |
57 | L>P | No |
ClinGen gnomAD |
|
rs199610931 CA304812632 |
57 | L>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA9132113 COSM1158111 COSM3389498 rs773638542 |
58 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA403648413 rs773638542 |
58 | R>G | No |
ClinGen ExAC gnomAD |
|
CA403648421 rs1405739568 |
58 | R>H | No |
ClinGen gnomAD |
|
rs1340543052 CA403648527 |
62 | L>P | No |
ClinGen TOPMed |
|
rs1176906044 CA403648534 |
63 | R>C | No |
ClinGen TOPMed gnomAD |
|
COSM294943 CA9132115 rs771269172 |
63 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs759771157 CA9132117 |
68 | Q>P | No |
ClinGen ExAC gnomAD |
|
rs1022061335 CA304798306 |
72 | L>H | No |
ClinGen TOPMed |
|
rs1599653395 CA403613336 |
77 | T>A | No |
ClinGen Ensembl |
|
rs768905072 CA9132156 |
80 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA9132157 rs776870760 |
81 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1349630957 CA403613525 |
87 | G>S | No |
ClinGen gnomAD |
|
CA403613564 rs1181866661 |
89 | K>R | No |
ClinGen gnomAD |
|
CA9132162 rs767189353 |
90 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132161 rs774093642 |
90 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403613603 rs370716087 |
91 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA403613612 rs1182441679 COSM1003061 |
92 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1182441679 CA403613615 |
92 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA9132165 rs763699001 |
95 | E>G | No |
ClinGen ExAC gnomAD |
|
CA403613687 rs1176543639 |
96 | A>T | No |
ClinGen TOPMed |
|
CA403613792 rs1453438674 |
101 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA403614553 rs1599654248 |
108 | V>G | No |
ClinGen Ensembl |
|
rs1389661073 CA403614573 |
109 | I>T | No |
ClinGen gnomAD |
|
rs750986727 CA9132186 |
110 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA9132187 rs750986727 |
110 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA9132185 rs764621143 |
110 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs780665383 CA9132188 |
111 | T>A | No |
ClinGen ExAC gnomAD |
|
CA9132190 rs755333060 |
114 | A>V | No |
ClinGen ExAC gnomAD |
|
CA403614750 rs1599654300 |
118 | T>S | No |
ClinGen Ensembl |
|
rs1199160941 CA403614833 |
122 | Q>R | No |
ClinGen gnomAD |
|
rs772003183 CA9132196 |
126 | I>T | No |
ClinGen ExAC gnomAD |
|
rs776311282 CA9132217 |
131 | T>N | No |
ClinGen ExAC gnomAD |
|
rs1360777593 CA403615085 |
132 | E>K | No |
ClinGen gnomAD |
|
rs1360777593 CA403615081 |
132 | E>Q | No |
ClinGen gnomAD |
|
CA403615090 rs1317626209 |
132 | E>V | No |
ClinGen TOPMed |
|
CA403615111 rs1245951846 |
134 | E>A | No |
ClinGen TOPMed gnomAD |
|
CA403615124 rs1433417325 |
135 | S>N | No |
ClinGen TOPMed |
|
rs769333944 CA9132219 |
142 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA403615252 rs1402302197 |
143 | S>I | No |
ClinGen gnomAD |
|
CA403615272 rs1599654536 |
144 | G>D | No |
ClinGen Ensembl |
|
rs1319067024 CA403615305 |
147 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs772860004 CA9132220 |
148 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA403615467 rs776054554 |
150 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403615363 rs1228580781 |
150 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA403615472 rs1275275449 |
151 | D>N | No |
ClinGen gnomAD |
|
rs761012404 CA9132244 |
152 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403615494 rs761012404 |
152 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403615503 rs1490765788 |
153 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA403615495 rs1249568957 |
153 | V>M | No |
ClinGen gnomAD |
|
rs1199900607 CA403615517 |
154 | E>A | No |
ClinGen gnomAD |
|
CA9132245 rs764489679 |
154 | E>D | No |
ClinGen ExAC gnomAD |
|
rs141064710 CA9132247 |
156 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9132248 rs765401527 RCV000756895 |
158 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA403615637 rs1408891434 |
160 | Y>C | No |
ClinGen gnomAD |
|
rs1405584178 CA403615656 |
161 | D>E | No |
ClinGen TOPMed |
|
rs1369256102 CA403615679 |
163 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs1304200162 CA403615713 |
166 | E>K | No |
ClinGen gnomAD |
|
CA403615735 rs1345103912 |
167 | E>G | No |
ClinGen gnomAD |
|
COSM3783301 CA9132249 COSM3783302 rs186483354 |
168 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
rs781046322 CA403615763 |
170 | G>D | No |
ClinGen ExAC gnomAD |
|
rs781046322 CA9132251 |
170 | G>V | No |
ClinGen ExAC gnomAD |
|
CA9132254 rs368628133 |
172 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs138608402 CA9132255 |
173 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753902811 CA9132257 |
176 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745430064 CA403615863 |
179 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403615865 rs1166175893 |
179 | R>H | No |
ClinGen gnomAD |
|
CA9132258 rs745430064 |
179 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1005492261 CA304803120 |
182 | P>L | No |
ClinGen Ensembl |
|
CA403615896 rs1164581766 |
182 | P>S | No |
ClinGen gnomAD |
|
CA403615908 rs1320481232 |
183 | V>A | No |
ClinGen gnomAD |
|
rs145204838 CA304803125 |
183 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
rs1309396077 CA403615913 |
184 | S>Y | No |
ClinGen gnomAD |
|
CA403615921 rs1327263668 |
185 | M>L | No |
ClinGen gnomAD |
|
rs1364790745 CA403616024 |
188 | K>R | No |
ClinGen gnomAD |
|
rs1289664598 CA403616034 |
189 | M>L | No |
ClinGen TOPMed |
|
rs1472371108 CA403616061 |
190 | T>A | No |
ClinGen gnomAD |
|
CA403616098 rs1157170873 |
192 | Y>S | No |
ClinGen TOPMed gnomAD |
|
CA403616161 rs1568303959 |
195 | R>C | No |
ClinGen Ensembl |
|
rs367965223 CA9132280 |
195 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA403616164 rs367965223 |
195 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9132281 rs200332893 |
196 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866988780 CA304803300 |
200 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs866988780 CA403616261 |
200 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA304803293 rs868133137 |
200 | R>W | No |
ClinGen gnomAD |
|
rs1284743157 CA403616323 |
203 | Q>* | No |
ClinGen gnomAD |
|
rs1323816967 CA403616346 |
204 | Q>* | No |
ClinGen gnomAD |
|
CA304803302 rs867655128 |
205 | T>K | No |
ClinGen gnomAD |
|
CA403616370 rs867655128 |
205 | T>M | No |
ClinGen gnomAD |
|
rs1198128245 CA403616378 |
206 | E>G | No |
ClinGen gnomAD |
|
rs1482551725 CA403616375 |
206 | E>K | No |
ClinGen gnomAD |
|
rs1251894078 CA403616386 |
207 | E>K | No |
ClinGen gnomAD |
|
CA304803328 rs774816667 |
209 | Y>* | No |
ClinGen Ensembl |
|
rs1299101805 CA403616422 |
210 | T>A | No |
ClinGen TOPMed |
|
CA403616426 rs1180494357 |
210 | T>N | No |
ClinGen gnomAD |
|
CA403616432 rs1480926472 |
211 | D>Y | No |
ClinGen gnomAD |
|
CA403616467 rs1268445203 |
214 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA403616470 rs1268445203 |
214 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs1369879958 CA403616500 |
217 | Q>H | No |
ClinGen gnomAD |
|
CA9132286 rs763208696 |
217 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA9132287 RCV000660644 rs201002344 |
217 | Q>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA403617341 rs1346594776 |
222 | K>E | No |
ClinGen gnomAD |
|
COSM1003065 rs759730093 CA403617443 |
226 | R>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs759730093 CA9132306 |
226 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132305 rs774426463 |
226 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1311112182 CA403617636 |
233 | I>T | No |
ClinGen gnomAD |
|
CA403617624 rs1228093524 |
233 | I>V | No |
ClinGen gnomAD |
|
CA9132309 rs184362178 |
235 | I>N | No |
ClinGen 1000Genomes ExAC |
|
CA9132310 rs368374146 |
240 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9132311 rs750236444 |
241 | E>K | No |
ClinGen ExAC gnomAD |
|
rs1490731461 CA403618561 |
245 | R>C | No |
ClinGen gnomAD |
|
rs375421504 CA304806528 |
245 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375421504 CA9132339 |
245 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1057439002 CA304806532 |
246 | V>F | No |
ClinGen Ensembl |
|
rs1476715930 CA403618602 |
248 | T>I | No |
ClinGen gnomAD |
|
rs772426650 CA9132342 |
249 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772426650 CA403618608 |
249 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1407473033 CA403618698 |
254 | M>I | No |
ClinGen gnomAD |
|
rs747143456 CA9132344 |
254 | M>T | No |
ClinGen ExAC gnomAD |
|
rs768614314 CA9132345 |
259 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1330758751 CA403618737 |
259 | G>V | No |
ClinGen gnomAD |
|
CA9132346 rs773238903 |
260 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1599658787 CA403618738 |
260 | T>P | No |
ClinGen Ensembl |
|
rs749155012 CA9132347 |
261 | P>R | No |
ClinGen ExAC gnomAD |
|
rs930218281 CA304806550 |
262 | G>C | No |
ClinGen TOPMed |
|
rs537876361 CA9132350 |
263 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM1003067 rs537876361 CA9132349 |
263 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs757852816 CA9132351 |
265 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1288629849 CA403618792 |
269 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs763490760 CA9132354 |
270 | F>L | No |
ClinGen ExAC gnomAD |
|
CA9132355 rs753340238 |
271 | I>M | No |
ClinGen ExAC gnomAD |
|
CA403618835 rs1248163658 |
275 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs1161591039 CA403618861 |
276 | R>S | No |
ClinGen gnomAD |
|
rs117819421 RCV000507235 CA9132366 |
279 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9132369 rs771827278 |
282 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132370 rs775175030 |
282 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1230009851 CA403618928 |
286 | Q>R | No |
ClinGen gnomAD |
|
CA304807839 rs1029661692 |
289 | S>L | No |
ClinGen Ensembl |
|
CA304807869 rs868785597 |
290 | A>V | No |
ClinGen Ensembl |
|
CA403618956 rs1328125015 |
291 | S>G | No |
ClinGen gnomAD |
|
rs866683359 CA304807879 |
291 | S>N | No |
ClinGen Ensembl |
|
rs995029550 CA304807884 |
291 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA304807894 rs868853012 |
294 | L>M | No |
ClinGen gnomAD |
|
rs1201478572 CA403618985 |
295 | D>G | No |
ClinGen gnomAD |
|
rs866015643 CA403618990 |
296 | R>C | No |
ClinGen TOPMed |
|
rs375777917 CA9132372 |
296 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs866015643 CA304807908 |
296 | R>S | No |
ClinGen TOPMed |
|
CA304807915 rs886702218 |
298 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs868159906 CA304807916 |
298 | A>V | No |
ClinGen gnomAD |
|
rs865782015 CA304807919 |
299 | A>T | No |
ClinGen gnomAD |
|
CA304807924 rs868005702 |
300 | A>D | No |
ClinGen Ensembl |
|
rs868298108 CA304807930 |
301 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1466647685 CA403619014 |
301 | R>W | No |
ClinGen gnomAD |
|
CA9132377 rs758873754 |
304 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132378 rs561810781 |
305 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA403620018 rs1447375449 |
312 | S>Y | No |
ClinGen gnomAD |
|
rs759883753 CA9132399 |
313 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs1291265584 CA403620168 |
318 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs1291265584 CA403620164 |
318 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs141278487 CA304809143 |
320 | F>L | No |
ClinGen ESP gnomAD |
|
CA304809151 rs865777450 |
321 | T>I | No |
ClinGen Ensembl |
|
rs1599661363 CA403620255 |
321 | T>P | No |
ClinGen Ensembl |
|
rs1287285533 CA403620299 |
323 | R>Q | No |
ClinGen TOPMed |
|
rs1009235778 CA304809162 |
323 | R>W | No |
ClinGen gnomAD |
|
CA403620340 rs1599661396 |
324 | D>A | No |
ClinGen Ensembl |
|
rs753876214 CA9132404 |
324 | D>E | No |
ClinGen ExAC gnomAD |
|
CA9132405 rs147266875 |
329 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA403620482 rs1379584911 |
331 | Q>R | No |
ClinGen TOPMed |
|
rs779910201 CA9132406 |
333 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132429 rs755829677 |
344 | V>G | No |
ClinGen ExAC gnomAD |
|
CA403620947 rs1178788797 |
344 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA403620950 rs1178788797 |
344 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA403620945 rs1178788797 |
344 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs777506541 CA9132430 |
345 | K>N | No |
ClinGen ExAC gnomAD |
|
CA403620988 rs1480476651 |
346 | H>Q | No |
ClinGen TOPMed |
|
rs1599661746 CA403620983 |
346 | H>Y | No |
ClinGen Ensembl |
|
rs374026712 CA9132433 |
350 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1410716733 CA403621102 |
351 | M>L | No |
ClinGen gnomAD |
|
CA403621106 rs1287984953 |
351 | M>T | No |
ClinGen gnomAD |
|
rs746412253 CA9132434 |
353 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1485237675 CA403621170 |
353 | K>N | No |
ClinGen TOPMed |
|
rs1485237675 CA403621167 |
353 | K>N | No |
ClinGen TOPMed |
|
CA9132435 rs528297651 |
355 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1599661792 CA403621205 |
355 | N>T | No |
ClinGen Ensembl |
|
CA9132438 rs764359782 |
356 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA403621218 rs760972545 |
356 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132439 rs776828202 |
358 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761920796 CA9132440 |
359 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1204298722 CA403621308 |
360 | L>Q | No |
ClinGen TOPMed |
|
rs1324332080 CA403621393 |
363 | M>L | No |
ClinGen TOPMed |
|
rs1351334791 CA403621441 |
364 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA9132465 rs752674851 |
381 | R>L | No |
ClinGen ExAC gnomAD |
|
CA304809693 rs958499128 |
392 | N>K | No |
ClinGen TOPMed |
|
rs1599662242 CA403622527 |
395 | Q>R | No |
ClinGen Ensembl |
|
rs765008044 CA9132489 |
398 | A>P | No |
ClinGen ExAC gnomAD |
|
CA403622757 rs1453178980 |
405 | I>M | No |
ClinGen TOPMed gnomAD |
|
rs1568307502 CA403622849 |
408 | E>Q | No |
ClinGen Ensembl |
|
rs1156670926 CA403622855 |
408 | E>V | No |
ClinGen gnomAD |
|
CA403622956 rs1312096452 |
413 | S>L | No |
ClinGen gnomAD |
|
rs779560365 CA9132492 |
415 | E>D | No |
ClinGen ExAC gnomAD |
|
CA403623012 rs751028226 |
416 | R>P | No |
ClinGen ExAC gnomAD |
|
CA9132493 rs751028226 |
416 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs755481100 CA9132494 |
420 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1330825202 CA403623069 |
420 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs1269495767 CA403624055 |
425 | F>L | No |
ClinGen gnomAD |
|
rs1016602018 CA304810393 |
432 | L>F | No |
ClinGen TOPMed |
|
rs768075621 CA9132513 |
433 | I>L | No |
ClinGen ExAC gnomAD |
|
rs768075621 CA403624209 |
433 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1367078790 CA403624390 |
441 | Y>C | No |
ClinGen TOPMed |
|
rs756598154 CA9132516 |
442 | D>E | No |
ClinGen ExAC gnomAD |
|
CA9132517 rs749604125 |
444 | K>R | No |
ClinGen ExAC gnomAD |
|
CA403624475 rs1294945264 |
445 | D>E | No |
ClinGen gnomAD |
|
CA403624527 rs1390770795 |
448 | N>S | No |
ClinGen gnomAD |
|
rs1231065156 CA403624564 |
450 | H>R | No |
ClinGen gnomAD |
|
CA9132518 rs757570479 |
450 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1307308032 CA403624618 |
453 | Q>L | No |
ClinGen gnomAD |
|
CA9132520 rs746012151 |
454 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1213212291 CA631671664 |
460 | G>* | No |
ClinGen gnomAD |
|
rs1160296531 CA403624716 |
461 | D>Y | No |
ClinGen TOPMed |
|
rs1251062530 CA403624733 |
462 | R>Q | No |
ClinGen gnomAD |
|
CA9132522 rs377393342 |
464 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
CA9132548 rs774877233 |
468 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1414342417 CA403625716 |
469 | H>Y | No |
ClinGen gnomAD |
|
CA9132550 rs764580249 |
470 | M>T | No |
ClinGen ExAC |
|
CA9132549 rs760219042 |
470 | M>V | No |
ClinGen ExAC gnomAD |
|
CA9132551 rs754343672 |
471 | F>L | No |
ClinGen ExAC gnomAD |
|
rs754343672 CA403625784 |
471 | F>L | No |
ClinGen ExAC gnomAD |
|
CA9132553 COSM1397450 rs144739934 |
475 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs144739934 CA403625834 |
475 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1315125144 CA403625912 |
476 | D>G | No |
ClinGen gnomAD |
|
CA403625944 rs1280838792 |
477 | Q>H | No |
ClinGen gnomAD |
|
rs1181183503 CA403626023 |
480 | Q>H | No |
ClinGen TOPMed |
|
rs113853914 CA304812524 |
481 | G>A | No |
ClinGen Ensembl |
|
CA9132555 rs758695911 |
481 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1253541466 CA403626182 |
486 | F>I | No |
ClinGen gnomAD |
|
CA403626291 rs1297726249 |
490 | E>Q | No |
ClinGen gnomAD |
|
rs1376401683 CA403626501 |
497 | E>G | No |
ClinGen gnomAD |
|
CA403626489 rs1176105969 |
497 | E>Q | No |
ClinGen gnomAD |
|
CA403626628 rs1242168799 |
501 | M>K | No |
ClinGen TOPMed gnomAD |
|
rs1242168799 CA403626634 |
501 | M>R | No |
ClinGen TOPMed gnomAD |
|
CA9132619 rs373199416 |
507 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs769393831 CA9132620 |
508 | P>L | No |
ClinGen ExAC gnomAD |
|
CA304813957 rs983328600 |
510 | N>S | No |
ClinGen gnomAD |
|
CA9132623 rs150058721 |
513 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199798227 CA9132627 |
514 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA403627434 rs199798227 |
514 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9132625 rs759808290 |
514 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764184305 CA9132629 |
515 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132628 rs760796877 |
515 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs911990552 CA304814034 |
516 | H>R | No |
ClinGen TOPMed |
|
CA403627598 rs1240545578 |
522 | S>C | No |
ClinGen gnomAD |
|
rs758364316 CA9132631 |
525 | E>A | No |
ClinGen ExAC gnomAD |
|
rs1384346863 CA403627637 |
525 | E>K | No |
ClinGen TOPMed |
|
CA403627671 rs1188954936 |
527 | T>A | No |
ClinGen gnomAD |
|
CA9132661 rs61750003 |
539 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA403628673 rs61750003 |
539 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9132662 rs747319718 |
539 | T>S | No |
ClinGen ExAC gnomAD |
|
rs776710563 CA9132664 |
545 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1172825998 CA403628821 |
545 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA9132665 rs761989004 |
547 | H>P | No |
ClinGen ExAC gnomAD |
|
rs761989004 CA403628877 |
547 | H>R | No |
ClinGen ExAC gnomAD |
|
rs773293298 CA9132667 |
548 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs527259397 CA9132666 |
548 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1389196157 CA403628958 |
550 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA9132668 rs759577156 |
550 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1373911353 CA403629067 |
555 | K>R | No |
ClinGen gnomAD |
|
CA304814317 rs867833957 |
556 | E>K | No |
ClinGen Ensembl |
|
rs752552285 CA9132670 |
559 | G>V | No |
ClinGen ExAC gnomAD |
|
rs1229831976 CA403629279 |
561 | V>F | No |
ClinGen gnomAD |
|
rs1599667596 CA403629286 |
561 | V>G | No |
ClinGen Ensembl |
|
CA403629272 rs1229831976 |
561 | V>I | No |
ClinGen gnomAD |
|
CA9132672 rs763849108 |
562 | P>L | No |
ClinGen ExAC gnomAD |
|
CA403629335 rs1568310526 |
563 | P>S | No |
ClinGen Ensembl |
|
CA9132675 rs778321882 |
565 | G>S | No |
ClinGen ExAC gnomAD |
|
COSM3836110 CA304814344 COSM3836111 rs912574175 |
566 | R>* | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA403629430 rs749873161 |
566 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM440606 CA9132676 rs749873161 |
566 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA403629471 rs1280760668 |
567 | H>R | No |
ClinGen TOPMed |
|
CA403629514 rs1250867780 |
569 | Q>* | No |
ClinGen gnomAD |
|
CA9132700 rs756302359 |
570 | D>V | No |
ClinGen ExAC gnomAD |
|
CA304814501 rs867250812 |
572 | P>L | No |
ClinGen Ensembl |
|
rs771115216 CA9132703 |
575 | M>L | No |
ClinGen ExAC gnomAD |
|
CA403629778 rs771115216 |
575 | M>V | No |
ClinGen ExAC gnomAD |
|
CA9132726 rs146852359 |
581 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9132725 rs747930438 |
581 | H>Y | No |
ClinGen ExAC gnomAD |
|
COSM267744 rs1280592299 CA403629994 |
582 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
CA9132727 rs140267055 |
582 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
CA403630039 rs1052570396 |
585 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA304814618 rs936943603 |
588 | K>R | No |
ClinGen Ensembl |
|
CA9132728 rs762621714 |
589 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132729 COSM1751240 rs571091777 |
591 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
CA403630160 rs1380290504 |
592 | L>M | No |
ClinGen gnomAD |
|
rs774824315 CA9132750 |
593 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1438223396 CA403630169 |
593 | G>R | No |
ClinGen gnomAD |
|
rs145348573 CA304815975 |
594 | L>P | No |
ClinGen ESP |
|
CA403631318 rs1160716963 |
604 | Y>F | No |
ClinGen TOPMed |
|
CA9132755 rs754314420 |
605 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132754 rs754314420 |
605 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs888309098 CA304816022 |
609 | P>A | No |
ClinGen gnomAD |
|
CA304816024 rs796871083 |
609 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs888309098 CA304816020 |
609 | P>T | No |
ClinGen gnomAD |
|
rs765599789 CA9132756 |
610 | P>A | No |
ClinGen ExAC gnomAD |
|
CA403631500 rs1255542793 |
611 | G>R | No |
ClinGen TOPMed gnomAD |
|
rs750632166 CA304816036 |
613 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750632166 CA9132757 |
613 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758497118 CA9132758 |
615 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1444964059 CA403631572 |
615 | P>S | No |
ClinGen TOPMed |
|
CA9132761 rs771801566 |
618 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM130144 rs751523777 CA9132760 |
618 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA304816054 rs1030346858 |
620 | N>S | No |
ClinGen Ensembl |
|
CA403631695 rs1432765301 |
621 | P>L | No |
ClinGen gnomAD |
|
CA9132763 rs749148436 |
621 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1347441521 CA403631739 |
623 | D>V | No |
ClinGen TOPMed |
|
CA9132765 rs778524498 |
624 | I>T | No |
ClinGen ExAC gnomAD |
|
CA9132764 rs757014068 |
624 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1476236857 CA403631779 |
626 | E>Q | No |
ClinGen gnomAD |
|
rs1165549029 CA403631812 |
628 | T>A | No |
ClinGen gnomAD |
|
rs745565957 CA9132766 |
628 | T>M | No |
ClinGen ExAC gnomAD |
|
rs745565957 CA304816067 |
628 | T>R | No |
ClinGen ExAC gnomAD |
|
rs775081040 CA9132768 |
631 | E>D | No |
ClinGen ExAC gnomAD |
|
rs989103478 CA304816069 |
631 | E>K | No |
ClinGen Ensembl |
|
rs1320553543 CA403631884 |
631 | E>V | No |
ClinGen TOPMed |
|
rs1345595140 CA403631906 |
632 | A>V | No |
ClinGen gnomAD |
|
CA304816074 rs914814433 |
633 | E>G | No |
ClinGen Ensembl |
|
rs1401587091 CA403631952 |
634 | Q>H | No |
ClinGen TOPMed |
|
CA403632209 rs1239964889 |
640 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA9132783 rs372781321 |
643 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9132784 rs758131236 |
644 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403632321 rs1255512643 |
647 | I>T | No |
ClinGen gnomAD |
|
rs1599670875 CA403632363 |
650 | F>V | No |
ClinGen Ensembl |
|
CA403632415 rs1440772258 |
653 | N>K | No |
ClinGen gnomAD |
|
rs1365619938 CA403632418 |
654 | R>G | No |
ClinGen TOPMed |
|
rs1599670900 CA403632449 |
655 | V>G | No |
ClinGen Ensembl |
|
rs1183825805 CA403632431 |
655 | V>M | No |
ClinGen gnomAD |
|
rs1438844911 CA403632483 |
657 | P>H | No |
ClinGen gnomAD |
|
CA403632498 rs1021382052 |
658 | Y>C | No |
ClinGen TOPMed |
|
rs1021382052 CA304816391 |
658 | Y>F | No |
ClinGen TOPMed |
|
CA403632506 rs1466577593 |
659 | V>I | No |
ClinGen TOPMed |
|
CA304822549 rs770645311 |
662 | P>R | No |
ClinGen Ensembl |
|
CA403634504 rs1177495695 |
662 | P>T | No |
ClinGen TOPMed |
|
CA9132804 rs779809203 |
663 | P>L | No |
ClinGen ExAC gnomAD |
|
CA304822552 rs779809203 |
663 | P>R | No |
ClinGen ExAC gnomAD |
|
rs751283015 CA9132805 |
666 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747601332 CA9132808 |
667 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403635108 rs1310385802 |
671 | W>* | No |
ClinGen TOPMed |
|
CA403635120 rs150162861 |
673 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs150162861 CA9132831 |
673 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA403635123 rs1295017027 |
673 | A>V | No |
ClinGen gnomAD |
|
rs370586875 CA9132833 |
675 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1486725623 CA403635140 |
676 | M>T | No |
ClinGen gnomAD |
|
rs760861518 CA9132834 |
678 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132835 rs768643429 |
679 | A>V | No |
ClinGen ExAC gnomAD |
|
rs374124624 CA9132836 |
680 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
rs1329754782 CA403635176 |
682 | E>G | No |
ClinGen Ensembl |
|
CA403635189 rs1189499025 |
684 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA304824401 rs868734448 |
686 | A>T | No |
ClinGen Ensembl |
|
rs1182028191 CA403635209 |
687 | N>S | No |
ClinGen gnomAD |
|
rs41306365 CA9132837 |
688 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA403635217 rs1424857566 |
688 | R>H | No |
ClinGen gnomAD |
|
CA304824405 rs912827901 |
690 | D>G | No |
ClinGen TOPMed |
|
rs759398960 CA9132840 |
691 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403635257 rs1360174946 |
695 | V>M | No |
ClinGen gnomAD |
|
rs1158113451 CA403635266 |
696 | R>Q | No |
ClinGen gnomAD |
|
rs1398201999 CA403635264 |
696 | R>W | No |
ClinGen gnomAD |
|
rs1599680819 CA403635289 |
699 | V>G | No |
ClinGen Ensembl |
|
rs1395314402 CA403635286 |
699 | V>L | No |
ClinGen gnomAD |
|
rs1395314402 CA403635284 |
699 | V>M | No |
ClinGen gnomAD |
|
rs753331935 CA9132845 |
707 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1030859905 CA304824417 |
708 | S>N | No |
ClinGen Ensembl |
|
rs1568319246 CA403635794 |
711 | Y>N | No |
ClinGen Ensembl |
|
CA9132874 rs769969950 |
712 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403635823 rs769969950 |
712 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403635830 rs745830320 |
713 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs745830320 CA9132875 |
713 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775206603 CA9132878 |
715 | V>F | No |
ClinGen ExAC gnomAD |
|
CA9132877 rs775206603 |
715 | V>I | No |
ClinGen ExAC gnomAD |
|
CA403635883 rs1366527500 |
718 | I>V | No |
ClinGen gnomAD |
|
rs924992440 CA304825499 |
720 | I>V | No |
ClinGen TOPMed |
|
CA9132880 rs149330066 RCV000508028 |
721 | M>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9132879 rs149330066 |
721 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs267605754 CA304825513 |
725 | G>R | No |
ClinGen Ensembl |
|
rs1599683422 CA403635985 |
727 | Y>C | No |
ClinGen Ensembl |
|
CA9132882 rs761409372 |
728 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132883 rs761409372 |
728 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1258040454 CA403635993 |
728 | R>W | No |
ClinGen gnomAD |
|
rs1390931580 CA403636021 |
731 | E>Q | No |
ClinGen TOPMed |
|
rs1568319356 CA403636032 |
732 | K>Q | No |
ClinGen Ensembl |
|
rs376389573 CA304825523 |
734 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
COSM3378878 CA304825537 rs752795410 |
736 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs766892501 CA9132886 |
736 | R>W | No |
ClinGen ExAC gnomAD |
|
CA9132889 rs755335843 |
737 | G>A | No |
ClinGen ExAC gnomAD |
|
CA9132888 rs755335843 |
737 | G>E | No |
ClinGen ExAC gnomAD |
|
CA9132887 rs199781915 |
737 | G>R | No |
ClinGen ExAC gnomAD |
|
VAR_051997 rs36097961 CA9132891 |
739 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA403636517 rs1599685615 |
745 | Y>S | No |
ClinGen Ensembl |
|
CA304826087 rs764207188 |
748 | N>Y | No |
ClinGen Ensembl |
|
CA304826088 rs1018053400 |
758 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA9132926 rs767854229 |
768 | P>A | No |
ClinGen ExAC gnomAD |
|
CA9132927 rs767854229 |
768 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1017952782 CA304826090 |
769 | E>A | No |
ClinGen TOPMed |
|
rs562061494 CA304826091 |
770 | K>R | No |
ClinGen Ensembl |
|
rs761088741 CA403636906 |
771 | R>S | No |
ClinGen ExAC gnomAD |
|
CA304826093 rs973492510 |
774 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA9132929 rs764458602 |
777 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1258698651 CA403637598 |
781 | T>K | No |
ClinGen TOPMed gnomAD |
|
rs1258698651 CA403637602 |
781 | T>R | No |
ClinGen TOPMed gnomAD |
|
CA304826235 rs767321559 |
782 | K>E | No |
ClinGen TOPMed gnomAD |
|
CA403637789 rs1196572531 |
790 | R>H | No |
ClinGen gnomAD |
|
rs1451778734 CA403637873 |
795 | A>T | No |
ClinGen gnomAD |
|
rs1197729272 CA403637891 |
796 | R>* | No |
ClinGen gnomAD |
|
rs752656112 CA9132953 |
796 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA304826239 rs950938415 |
797 | D>N | No |
ClinGen Ensembl |
|
COSM3404766 rs1478549387 CA403637911 |
798 | R>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA403637948 rs1599686693 |
802 | S>L | No |
ClinGen Ensembl |
|
CA9132955 rs777550036 |
804 | K>T | No |
ClinGen ExAC gnomAD |
|
rs866390655 CA304826247 |
805 | E>A | No |
ClinGen Ensembl |
|
rs1568321298 CA403638004 |
806 | G>D | No |
ClinGen Ensembl |
|
CA9132957 rs756992113 |
808 | I>N | No |
ClinGen ExAC gnomAD |
|
CA9132958 rs778399512 |
813 | N>Y | No |
ClinGen ExAC gnomAD |
|
CA304826254 rs1023632228 |
814 | K>R | No |
ClinGen TOPMed |
|
CA304826255 rs968114947 |
815 | K>R | No |
ClinGen TOPMed |
|
CA9132960 rs771728616 |
816 | G>E | No |
ClinGen ExAC gnomAD |
|
CA9132959 rs745431526 |
816 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1225183789 CA403638221 |
818 | Q>E | No |
ClinGen gnomAD |
|
rs975206431 CA304826265 |
819 | G>A | No |
ClinGen TOPMed |
|
rs779669403 CA9132961 |
819 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403638264 rs1302126447 |
820 | W>L | No |
ClinGen TOPMed |
|
rs1438044972 CA403638291 |
821 | W>* | No |
ClinGen TOPMed |
|
rs1488692859 CA403638306 |
822 | R>* | No |
ClinGen gnomAD |
|
CA403638308 rs1208856602 |
822 | R>Q | No |
ClinGen gnomAD |
|
CA403638344 rs1266409750 |
824 | E>D | No |
ClinGen gnomAD |
|
rs922050828 CA304826268 |
825 | I>F | No |
ClinGen Ensembl |
|
CA9132964 rs199788005 |
828 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9132963 rs535090610 |
828 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs774471900 CA9132990 |
837 | V>M | No |
ClinGen ExAC gnomAD |
|
CA304827510 rs866209735 |
839 | E>G | No |
ClinGen Ensembl |
|
CA9132991 rs759607376 |
841 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764140485 CA9132992 |
842 | S>Y | No |
ClinGen ExAC gnomAD |
|
CA403639025 rs1378848011 |
846 | C>S | No |
ClinGen TOPMed gnomAD |
No associated diseases with P15498
4 regional properties for P15498
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR45818 | PROTEIN VAV |
PANTHER Subfamily | PTHR45818:SF2 | PROTO-ONCOGENE VAV |
PANTHER Protein Class | ||
PANTHER Pathway Category |
B cell activation vav T cell activation vav PDGF signaling pathway Vav Inflammation mediated by chemokine and cytokine signaling pathway GEF |
3 GO annotations of cellular component
Name | Definition |
---|---|
cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
Name | Definition |
---|---|
guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
metal ion binding | Binding to a metal ion. |
phosphorylation-dependent protein binding | Binding to a protein upon phosphorylation of the target protein. |
phosphotyrosine residue binding | Binding to a phosphorylated tyrosine residue within a protein. |
17 GO annotations of biological process
Name | Definition |
---|---|
Fc-epsilon receptor signaling pathway | The series of molecular signals initiated by the binding of the Fc portion of immunoglobulin E (IgE) to an Fc-epsilon receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. The Fc portion of an immunoglobulin is its C-terminal constant region. |
Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
G protein-coupled receptor signaling pathway | The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane. |
immune response | Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat. |
integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
neutrophil chemotaxis | The directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding. |
platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
positive regulation of natural killer cell mediated cytotoxicity | Any process that activates or increases the frequency, rate or extent of natural killer cell mediated cytotoxicity. |
reactive oxygen species metabolic process | The chemical reactions and pathways involving a reactive oxygen species, any molecules or ions formed by the incomplete one-electron reduction of oxygen. They contribute to the microbicidal activity of phagocytes, regulation of signal transduction and gene expression, and the oxidative damage to biopolymers. |
regulation of cell size | Any process that modulates the size of a cell. |
regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
small GTPase mediated signal transduction | The series of molecular signals in which a small monomeric GTPase relays a signal. |
T cell costimulation | The process of providing, via surface-bound receptor-ligand pairs, a second, antigen-independent, signal in addition to that provided by the T cell receptor to augment T cell activation. |
T cell differentiation | The process in which a precursor cell type acquires characteristics of a more mature T-cell. A T cell is a type of lymphocyte whose definin characteristic is the expression of a T cell receptor complex. |
vascular endothelial growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to a vascular endothelial growth factor receptor (VEGFR) on the surface of the target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
9 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q08DN7 | VAV1 | Proto-oncogene vav | Bos taurus (Bovine) | SS |
Q9NHV9 | Vav | Protein vav | Drosophila melanogaster (Fruit fly) | SS |
P52735 | VAV2 | Guanine nucleotide exchange factor VAV2 | Homo sapiens (Human) | SS |
Q9UKW4 | VAV3 | Guanine nucleotide exchange factor VAV3 | Homo sapiens (Human) | SS |
Q9R0C8 | Vav3 | Guanine nucleotide exchange factor VAV3 | Mus musculus (Mouse) | SS |
Q60992 | Vav2 | Guanine nucleotide exchange factor VAV2 | Mus musculus (Mouse) | SS |
P27870 | Vav1 | Proto-oncogene vav | Mus musculus (Mouse) | EV |
P54100 | Vav1 | Proto-oncogene vav | Rattus norvegicus (Rat) | SS |
Q45FX5 | vav-1 | Protein vav-1 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MELWRQCTHW | LIQCRVLPPS | HRVTWDGAQV | CELAQALRDG | VLLCQLLNNL | LPHAINLREV |
70 | 80 | 90 | 100 | 110 | 120 |
NLRPQMSQFL | CLKNIRTFLS | TCCEKFGLKR | SELFEAFDLF | DVQDFGKVIY | TLSALSWTPI |
130 | 140 | 150 | 160 | 170 | 180 |
AQNRGIMPFP | TEEESVGDED | IYSGLSDQID | DTVEEDEDLY | DCVENEEAEG | DEIYEDLMRS |
190 | 200 | 210 | 220 | 230 | 240 |
EPVSMPPKMT | EYDKRCCCLR | EIQQTEEKYT | DTLGSIQQHF | LKPLQRFLKP | QDIEIIFINI |
250 | 260 | 270 | 280 | 290 | 300 |
EDLLRVHTHF | LKEMKEALGT | PGAANLYQVF | IKYKERFLVY | GRYCSQVESA | SKHLDRVAAA |
310 | 320 | 330 | 340 | 350 | 360 |
REDVQMKLEE | CSQRANNGRF | TLRDLLMVPM | QRVLKYHLLL | QELVKHTQEA | MEKENLRLAL |
370 | 380 | 390 | 400 | 410 | 420 |
DAMRDLAQCV | NEVKRDNETL | RQITNFQLSI | ENLDQSLAHY | GRPKIDGELK | ITSVERRSKM |
430 | 440 | 450 | 460 | 470 | 480 |
DRYAFLLDKA | LLICKRRGDS | YDLKDFVNLH | SFQVRDDSSG | DRDNKKWSHM | FLLIEDQGAQ |
490 | 500 | 510 | 520 | 530 | 540 |
GYELFFKTRE | LKKKWMEQFE | MAISNIYPEN | ATANGHDFQM | FSFEETTSCK | ACQMLLRGTF |
550 | 560 | 570 | 580 | 590 | 600 |
YQGYRCHRCR | ASAHKECLGR | VPPCGRHGQD | FPGTMKKDKL | HRRAQDKKRN | ELGLPKMEVF |
610 | 620 | 630 | 640 | 650 | 660 |
QEYYGLPPPP | GAIGPFLRLN | PGDIVELTKA | EAEQNWWEGR | NTSTNEIGWF | PCNRVKPYVH |
670 | 680 | 690 | 700 | 710 | 720 |
GPPQDLSVHL | WYAGPMERAG | AESILANRSD | GTFLVRQRVK | DAAEFAISIK | YNVEVKHIKI |
730 | 740 | 750 | 760 | 770 | 780 |
MTAEGLYRIT | EKKAFRGLTE | LVEFYQQNSL | KDCFKSLDTT | LQFPFKEPEK | RTISRPAVGS |
790 | 800 | 810 | 820 | 830 | 840 |
TKYFGTAKAR | YDFCARDRSE | LSLKEGDIIK | ILNKKGQQGW | WRGEIYGRVG | WFPANYVEED |
YSEYC |