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ARHGAP24

Synonyms
FILGAP, RC-GAP72, RCGAP72, p73, p73RhoGAP
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,133
Likely benign
1,265
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ARHGAP24 gene.

Phenotype class
Patients in 3billion (%)

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