Gene Detail

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Gene Symbol PIK3CA
Synonyms CLAPO | CLOVE | CWS5 | MCAP | MCM | MCMTC | p110-alpha | PI3K | PI3K-alpha
Gene Description PIK3CA, phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform, activates AKT/mTOR signaling to promote cell proliferation (PMID: 23411347). PIK3CA activating mutations have been identified in a number of tumor types such as breast cancer, colon cancer, endometrial cancer, glioblastoma, skin cancer, and ovarian cancer (PMID: 20535651).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
E542X missense unknown PIK3CA E542X indicates any Pik3ca missense mutation which results in the glutamic acid (E) at amino acid 542 being replaced by a different amino acid.
E545X missense unknown PIK3CA E545X indicates any Pik3ca missense mutation which results in the glutamic acid (E) at amino acid 545 being replaced by a different amino acid. PIK3CA E545X mutations are "hotspot" mutations resulting in increased Pik3ca kinase activity (PMID: 15930273).
H1047X missense unknown PIK3CA H1047X indicates any Pik3ca missense mutation which results in the histidine (H) at amino acid 1047 being replaced by a different amino acid. PIK3CA H1047X mutations are "hotspot" mutations resulting in increased Pik3ca kinase activity and transformation activity in culture (PMID: 15930273).
Q546X missense unknown PIK3CA Q546X indicates any Pik3ca missense mutation which results in the glutamine (Q) at amino acid 546 being replaced by a different amino acid.
act mut unknown gain of function PIK3CA act mut indicates that this variant results in a gain of function in the Pik3ca protein. However, the specific amino acid change has not been identified.
exon20 unknown unknown PIK3CA exon 20 indicates an unspecified mutation has occurred in exon 20 of the PIK3CA gene.
exon9 unknown unknown PIK3CA exon 9 indicates an unspecified mutation has occurred in exon 9 of the PIK3CA gene.
mutant unknown unknown PIK3CA mutant indicates an unspecified mutation within the PIK3CA gene.