AFAP1 Chromosome 4

Actin filament associated protein 1
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
4p16.1
Ensembl
ENSG00000196526
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS368001545 Health Risk Conflicting classifications of pathogenicity
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