ARHGEF1 Chromosome 19

Rho guanine nucleotide exchange factor 1
5 variants 5 Health Risk

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What This Gene Does
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Dbl family Rho GEFs
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000076928
Associated Conditions (2)
ARHGEF1-related disorder
Immunodeficiency 62
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS199751095 Health Risk Conflicting classifications of pathogenicity ARHGEF1-related disorder, ARHGEF1-related disorder
RS200492200 Health Risk Conflicting classifications of pathogenicity ARHGEF1-related disorder, ARHGEF1-related disorder
RS368646630 Health Risk Conflicting classifications of pathogenicity —
RS375950739 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 62, Immunodeficiency 62
RS782814578 Health Risk Conflicting classifications of pathogenicity —
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