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ARHGAP22

Synonyms
RhoGAP2, RhoGap22
External resources
Summary
This gene encodes a member of the GTPase activating protein family which activates a GTPase belonging to the RAS superfamily of small GTP-binding proteins. The encoded protein is insulin-responsive, is dependent on the kinase Akt and requires the Akt-dependent 14-3-3 binding protein which binds sequentially to two serine residues. The result of these interactions is regulation of cell motility. Multiple transcript variants encoding different isoforms have been found for this gene.

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
6,415
Likely benign
800
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ARHGAP22 gene.

Phenotype class
Patients in 3billion (%)

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