Gene: VAV3

Alternate names for this Gene: -

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.3

Description of this Gene: vav guanine nucleotide exchange factor 3

Type of Gene: protein-coding

rs10494079 in VAV3 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10494079 in VAV3 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10494079 in VAV3 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7521681 in VAV3 gene and Asthma PMID 24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.

rs10494079 in VAV3 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7537605 in VAV3 gene and Autoimmune thyroiditis PMID 25429627 2015 Identification of a Hashimoto thyroiditis susceptibility locus via a genome-wide comparison with Graves' disease.

rs12126655 in VAV3 gene and Blood thyroid stimulating hormone analysis PMID 24722205 2014 A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.

rs4915076 in VAV3 gene and Differentiated Thyroid Gland Carcinoma PMID 28703219 2017 Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer.

rs17484960 in VAV3 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7537605 in VAV3 gene and Graves Disease PMID 25429627 2015 A genome-wide direct comparison between HT and GD revealed an SNP at the VAV3 locus with genome-wide significant association signals (rs7537605: P(combined) = 3.90 × 10(-8); odds ratio(combined) = 1.77; 95% confidence interval = 1.44-2.17).

rs7537605 in VAV3 gene and Hashimoto Disease PMID 25429627 2015 A genome-wide direct comparison between HT and GD revealed an SNP at the VAV3 locus with genome-wide significant association signals (rs7537605: P(combined) = 3.90 × 10(-8); odds ratio(combined) = 1.77; 95% confidence interval = 1.44-2.17).

rs7521681 in VAV3 gene and Hay fever PMID 24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.

rs17019823 in VAV3 gene and Hypothyroidism PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30367059 2018 Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

rs17019602 in VAV3 gene and IGA Glomerulonephritis PMID 25305756 2014 Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.

rs4915076 in VAV3 gene and Papillary thyroid carcinoma PMID 28703219 2017 Genome-wide association and expression quantitative trait loci studies identify multiple susceptibility loci for thyroid cancer.

rs12126655 in VAV3 gene and Thyroid stimulating hormone measurement PMID 24722205 2014 An intronic variant in VAV3, rs12126655, which has been reported in Europeans, was significantly associated with plasma TSH concentration in the joint Stages 1 and 2 analyses (P = 2.2 × 10(-8)).