VAV3
vav guanine nucleotide exchange factor 3
Summary
This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
Known Variants92 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs8676 | 1:108,113,865 | G/A | 3 prime UTR variant | — |
| rs2769668 | 1:108,115,145 | T/A | — | — |
| rs2820135 | 1:108,116,661 | C/T | — | benign |
| rs142245622 | 1:108,116,715 | G/A | — | likely benign |
| rs374819145 | 1:108,116,755 | C/G | — | uncertain significance |
| rs749112269 | 1:108,116,788 | C/T | — | uncertain significance |
| rs200778284 | 1:108,116,789 | G/A | — | likely benign |
| rs55703522 | 1:108,116,792 | G/A | — | likely benign |
| rs936570789 | 1:108,138,857 | C/T | — | uncertain significance |
| rs746128104 | 1:108,138,893 | A/T | — | uncertain significance |
| rs2524799466 | 1:108,145,077 | A/G | — | uncertain significance |
| rs187596174 | 1:108,145,661 | C/A | — | benign |
| rs2524804833 | 1:108,145,703 | T/C | — | uncertain significance |
| rs1025532758 | 1:108,145,739 | T/G | — | uncertain significance |
| rs758600345 | 1:108,145,760 | G/T | — | uncertain significance |
| rs138334746 | 1:108,152,557 | G/T | — | likely benign |
| rs2524928984 | 1:108,160,200 | G/C | — | uncertain significance |
| rs749056764 | 1:108,185,243 | G/C | — | uncertain significance |
| rs146124612 | 1:108,185,260 | G/A | — | uncertain significance |
| rs142082399 | 1:108,185,263 | T/C | — | uncertain significance |
| rs12410676 | 1:108,185,309 | G/A | missense variant | — |
| rs144957554 | 1:108,185,314 | C/T | — | uncertain significance |
| rs904799312 | 1:108,185,327 | C/T | — | uncertain significance |
| rs199768177 | 1:108,185,345 | A/G | — | uncertain significance |
| rs780335876 | 1:108,226,137 | G/C | — | uncertain significance |
| rs2525589194 | 1:108,231,020 | T/C | — | uncertain significance |
| rs34392412 | 1:108,247,671 | T/C | — | benign |
| rs552099240 | 1:108,266,291 | G/A | — | — |
| rs377080778 | 1:108,291,668 | T/C | — | uncertain significance |
| rs1464221135 | 1:108,291,692 | T/C | — | uncertain significance |
| rs143070546 | 1:108,292,102 | G/A | — | likely benign |
| rs778040461 | 1:108,292,118 | G/C | — | uncertain significance |
| rs367543372 | 1:108,292,185 | C/T | — | uncertain significance |
| rs1178106726 | 1:108,292,194 | C/T | — | uncertain significance |
| rs756156517 | 1:108,292,211 | A/T | — | uncertain significance |
| rs911084284 | 1:108,292,214 | T/C | — | uncertain significance |
| rs377138310 | 1:108,293,775 | C/T | — | uncertain significance |
| rs1570894128 | 1:108,293,810 | C/T | — | likely benign |
| rs35313815 | 1:108,298,086 | C/T | — | likely benign |
| rs771896813 | 1:108,298,087 | G/C | — | uncertain significance |
| rs17541972 | 1:108,299,925 | C/T | — | likely benign |
| rs12142335 | 1:108,302,922 | G/A | intron variant | — |
| rs763191415 | 1:108,303,434 | C/T | — | uncertain significance |
| rs1334997602 | 1:108,307,766 | C/A | — | uncertain significance |
| rs201515652 | 1:108,307,785 | G/A | — | benign |
| rs2523866472 | 1:108,309,076 | T/C | — | uncertain significance |
| rs1393658531 | 1:108,309,162 | T/C | — | uncertain significance |
| rs56268920 | 1:108,309,182 | G/A | — | benign |
| rs1010856010 | 1:108,313,283 | G/A | — | uncertain significance |
| rs1282594059 | 1:108,313,284 | T/C | — | uncertain significance |
| rs34318889 | 1:108,319,884 | C/T | — | benign |
| rs17020006 | 1:108,319,891 | A/G | — | benign |
| rs2102214910 | 1:108,319,902 | C/G | — | uncertain significance |
| rs7521681 | 1:108,322,535 | G/A | upstream gene variant | — |
| rs528427979 | 1:108,333,499 | G/A | — | — |
| rs7537605 | 1:108,343,087 | G/T | — | — |
| rs76965144 | 1:108,350,176 | T/A | intron variant | — |
| rs78495697 | 1:108,355,719 | C/T | intron variant | — |
| rs12126655 | 1:108,356,820 | A/C | — | — |
| rs17020122 | 1:108,357,391 | C/T | intron variant | — |
| rs17020123 | 1:108,357,573 | A/G | intron variant | — |
| rs17020124 | 1:108,358,011 | G/A | intron variant | — |
| rs78499451 | 1:108,359,789 | T/C | intron variant | — |
| rs75778624 | 1:108,359,790 | A/G | intron variant | — |
| rs77475507 | 1:108,362,107 | C/A | intron variant | — |
| rs75125154 | 1:108,363,526 | A/G | regulatory region variant | — |
| rs80173139 | 1:108,365,138 | A/G | intron variant | — |
| rs4915077 | 1:108,366,016 | T/C | intron variant | — |
| rs17020139 | 1:108,369,483 | G/A | intron variant | — |
| rs17020146 | 1:108,374,702 | A/C | intron variant | — |
| rs567581284 | 1:108,401,973 | C/T | — | — |
| rs1075564 | 1:108,407,993 | A/G | intron variant | — |
| rs372445365 | 1:108,417,536 | C/T | — | uncertain significance |
| rs61761613 | 1:108,417,537 | G/C | — | uncertain significance |
| rs577192703 | 1:108,417,545 | A/G | — | uncertain significance |
| rs12072686 | 1:108,417,549 | A/G | — | benign |
| rs377367526 | 1:108,417,561 | C/T | — | uncertain significance |
| rs2524579876 | 1:108,417,566 | A/C | — | uncertain significance |
| rs370815345 | 1:108,417,634 | G/A | — | likely benign |
| rs345299 | 1:108,448,133 | A/C | intron variant | — |
| rs34544361 | 1:108,495,111 | C/T | intron variant | — |
| rs2801219 | 1:108,502,412 | C/A | upstream gene variant | — |
| rs567648027 | 1:108,507,327 | G/C | — | uncertain significance |
| rs2101432623 | 1:108,507,329 | T/C | — | uncertain significance |
| rs536779442 | 1:108,507,338 | C/T | — | uncertain significance |
| rs1345999169 | 1:108,507,375 | A/T | — | uncertain significance |
| rs760369450 | 1:108,507,386 | T/C | — | uncertain significance |
| rs138170759 | 1:108,507,419 | A/G | — | likely benign |
| rs964672810 | 1:108,507,421 | G/A | — | uncertain significance |
| rs753012567 | 1:108,507,425 | C/T | — | uncertain significance |
| rs146244286 | 1:108,507,473 | A/C | — | uncertain significance |
| rs142499589 | 1:108,507,483 | C/G | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.