ARHGEF1 Chromosome 19
Rho guanine nucleotide exchange factor 1
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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
RS199751095
Conflicting classifications of pathogenicity
ARHGEF1-related disorder, ARHGEF1-related disorder
Health Risk
RS200492200
Conflicting classifications of pathogenicity
ARHGEF1-related disorder, ARHGEF1-related disorder
Health Risk
RS368646630
Conflicting classifications of pathogenicity
Health Risk
RS375950739
Conflicting classifications of pathogenicity
Immunodeficiency 62, Immunodeficiency 62
Health Risk
RS782814578
Conflicting classifications of pathogenicity
Health Risk
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 | — |