Home > Gene Browser > PIK3R6

PIK3R6

Synonyms
C17orf38, HsT41028, p84 PIKAP, p87(PIKAP), p87PIKAP
External resources
Summary
Phosphoinositide 3-kinase gamma is a lipid kinase that produces the lipid second messenger phosphatidylinositol 3,4,5-trisphosphate. The kinase is composed of a catalytic subunit and one of several regulatory subunits, and is chiefly activated by G protein-coupled receptors. This gene encodes a regulatory subunit, and is distantly related to the phosphoinositide-3-kinase, regulatory subunit 5 gene which is located adjacent to this gene on chromosome 7. The orthologous protein in the mouse binds to both the catalytic subunit and to G(beta/gamma), and mediates activation of the kinase subunit downstream of G protein-coupled receptors. 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
20,803
Likely benign
5,260
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on PIK3R6 gene.

Phenotype class
Patients in 3billion (%)

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