rs13188339

This is a upstream gene variant variant in the ARHGAP26 gene.

GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

matrilin-3 measurement

Allele T
OR 0.05
p 2.0e-12
N 47,745
Large GWAS
European

About ARHGAP26

Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The protein encoded by this gene is a GTPase activating protein that binds to focal adhesion kinase and mediates the activity of the GTP binding proteins RhoA and Cdc42. Defects in this gene are a cause of juvenile myelomonocytic leukemia (JMML). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2017]

View all ARHGAP26 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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