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Gene | PIK3CA |
Variant | G118D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA G118D lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). G118D confers a gain of function on the Pik3ca protein as indicated by enhanced lipid kinase activity in cell culture, increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (PMID: 22949682, PMID: 23246288), and increased transformation ability in two different cell lines (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA G118D |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199690G>A |
cDNA | c.353G>A |
Protein | p.G118D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA G118D | lung non-small cell carcinoma | sensitive | LY3023414 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, LY3023414 inhibited proliferation of non-small cell lung cancer cells harboring PIK3CA G118D in culture, resulted in tumor growth inhibition in cell line xenograft models (PMID: 27439478). | 27439478 |
PIK3CA G118D | head and neck squamous cell carcinoma | sensitive | Alpelisib + Tipifarnib | Preclinical - Pdx | Actionable | In a preclinical study, the combination of Piqray (alpelisib) and Zarnestra (tipifarnib) inhibited tumor growth in a patient-derived xenograft (PDX) model of head and neck squamous cell carcinoma harboring PIK3CA G118D (PMID: 37339176). | 37339176 |