rs121913287

This is a variant in the PIK3CA gene that changes a arginine to an glutamine.

▶

ClinVar annotation

Pathogenic★★★☆

12 submitters27 publications

Abnormal cerebral morphology; CLOVES syndrome; Cowden syndrome (CS); Cowden syndrome 5 (CWS5); Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP); Ovarian neoplasm; PIK3CA related overgrowth syndrome

View on ClinVar →

About PIK3CA

Phosphatidylinositol 3-kinase is composed of an 85 kDa regulatory subunit and a 110 kDa catalytic subunit. The protein encoded by this gene represents the catalytic subunit, which uses ATP to phosphorylate PtdIns, PtdIns4P and PtdIns(4,5)P2. This gene has been found to be oncogenic and has been implicated in cervical cancers. A pseudogene of this gene has been defined on chromosome 22. [provided by RefSeq, Apr 2016]

View all PIK3CA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…