Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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 and binding in in vitro assays (PMID: 22949682), increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (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 |
|---|---|---|---|---|---|
| XM_011512894 | 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_006713658.5 | 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 |
| NM_006218 | 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 |
| NM_006218.3 | 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 |