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Gene | PIK3CA |
Variant | E542V |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E542V is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542V confers a gain of function on Pik3ca, as indicated by increased phosphorylation of Akt and Mek1/2, growth-factor independent cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E542V PIK3CA mutant PIK3CA exon10 PIK3CA E542X PIK3CA E542V |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218295A>T |
cDNA | c.1625A>T |
Protein | p.E542V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218295A>T | c.1625A>T | p.E542V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E542V | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |