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| Gene | PIK3CA |
| Variant | E453Q |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA E453Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453Q confers a gain of function to Pik3ca as indicated by increased lipid kinase activity in cell culture (PMID: 15930273) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E453Q PIK3CA mutant PIK3CA exon8 PIK3CA E453Q |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179210291G>C |
| cDNA | c.1357G>C |
| Protein | p.E453Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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