AGAP1 Chromosome 2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
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What This Gene Does
This gene encodes a member of an ADP-ribosylation factor GTPase-activating protein family involved in membrane trafficking and cytoskeleton dynamics. This gene functions as a direct regulator of the adaptor-related protein complex 3 on endosomes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
"ArfGAPs|Ankyrin repeat domain containing|BAR-PH domain containing"
Locus Type
gene with protein product
Location
2q37.2
Ensembl
ENSG00000157985
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS202230563 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS367559858 | Health Risk | Conflicting classifications of pathogenicity | — |