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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, activates PI3K/AKT/mTOR signaling to promote cell proliferation (PMID: 23411347, PMID: 31905960). PIK3CA activating mutations have been identified in a number of tumor types such as breast cancer (PMID: 32234362, PMID: 32404150), colon cancer (PMID: 32099598), endometrial cancer, glioblastoma, skin cancer, ovarian cancer (PMID: 20535651, PMID: 31892193), and mammary angiosarcoma (PMID: 32123305), and PIK3CA amplification has been observed in esophageal adenocarcinoma (PMID: 31865178).

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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.
exon10 unknown unknown PIK3CA exon 10 indicates an unspecified mutation has occurred in exon 10 (corresponding to amino acids 514 to 555) of the PIK3CA gene. PIK3CA exon 10 is sometimes reported as exon 9, when only coding exons are considered in numbering.
exon20 unknown unknown PIK3CA exon 20 indicates an unspecified mutation has occurred in exon 20 (corresponding to amino acids 929 to 979) of the PIK3CA gene. PIK3CA exon 21 (corresponding to amino acids 979 to 1068) is sometimes reported as exon 20, when only coding exons are considered in numbering.
exon21 unknown unknown PIK3CA exon 21 indicates an unspecified mutation has occurred in exon 21 (corresponding to amino acids 979 to 1068) of the PIK3CA gene. PIK3CA exon 21 is sometimes reported as exon 20, when only coding exons are considered in numbering.
exon9 unknown unknown PIK3CA exon 9 indicates an unspecified mutation has occurred in exon 9 (corresponding to amino acids 469 to 513) of the PIK3CA gene. PIK3CA exon 10 (corresponding to amino acids 514 to 555) is sometimes reported as exon 9, when only coding exons are considered in numbering.
inact mut unknown loss of function PIK3CA inact mut indicates that this variant results in a loss of function of the Pik3ca protein. However, the specific amino acid change has not been identified.
mutant unknown unknown PIK3CA mutant indicates an unspecified mutation within the PIK3CA gene.
N1068fs frameshift gain of function PIK3CA N1068fs results in a change in the amino acid sequence of the Pik3ca protein beginning at the stop codon, aa 1068 (UniProt.org). N1068fs (reported as N1068fs*4) confers a gain of function to the Pik3ca protein, as demonstrated by activation of Akt/mTor signaling and tumorigenesis in transgenic animal models (PMID: 21703185).