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| Gene | PIK3CA |
| Variant | E418K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA E418K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E418K does not increase proliferation in cultured cells in one study (PMID: 38909932), but results in increased cell growth compared to wild-type PIK3CA in multiple cell lines in another study (PMID: 34779417), leads to increased Akt phosphorylation, migration (PMID: 38909932, PMID: 34779417), and invasion (PMID: 38909932), and demonstrates transforming activity in cultured cells (PMID: 34779417). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E418K PIK3CA mutant PIK3CA exon8 PIK3CA E418K |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179210186G>A |
| cDNA | c.1252G>A |
| Protein | p.E418K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PIK3CA E418K | breast cancer | sensitive | LY294002 | Preclinical - Cell culture | Actionable | In a preclinical study, LY294002 inhibited proliferation of a breast cancer cell line expressing PIK3CA E418K in culture (PMID: 38909932). | 38909932 |