rs2148811777
This variant is located in the ARHGAP24 gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters2 publicationsAbout ARHGAP24
This gene encodes a Rho-GTPase activating protein, which is specific for the small GTPase family member Rac. Binding of the encoded protein by filamin A targets it to sites of membrane protrusion, where it antognizes Rac. This results in suppression of lamellae formation and promotion of retraction to regulate cell polarity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
View all ARHGAP24 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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