VAV1 Chromosome 19
Vav guanine nucleotide exchange factor 1
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What This Gene Does
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. The encoded protein is important in hematopoiesis, playing a role in T-cell and B-cell development and activation. The encoded protein has been identified as the specific binding partner of Nef proteins from HIV-1. Coexpression and binding of these partners initiates profound morphological changes, cytoskeletal rearrangements and the JNK/SAPK signaling cascade, leading to increased levels of viral transcription and replication. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"Pleckstrin homology domain containing|Dbl family Rho GEFs|SH2 domain containing"
Locus Type
gene with protein product
Location
19p13.3
Ensembl
ENSG00000141968
Key Variants
RS149330066
Conflicting classifications of pathogenicity
Health Risk
RS367963535
Conflicting classifications of pathogenicity
Health Risk
RS61750003
Conflicting classifications of pathogenicity
Health Risk
RS780032946
Conflicting classifications of pathogenicity
Health Risk
RS865782015
Conflicting classifications of pathogenicity
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS149330066 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367963535 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61750003 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780032946 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS865782015 | Health Risk | Conflicting classifications of pathogenicity | — |