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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 |
---|---|---|---|---|---|
XM_011512894 | 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 |
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 |
NM_006218.4 | 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 | chr3:g.179210291G>C | c.1357G>C | p.E453Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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