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Gene | PIK3CA |
Variant | E726K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E726K does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E726K results in increased cell proliferation and migration and increased Akt phosphorylation compared to wild-type Pik3ca in culture (PMID: 34779417) and increased transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E726K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179221146G>A |
cDNA | c.2176G>A |
Protein | p.E726K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179221146G>A | c.2176G>A | p.E726K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E726K | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
PIK3CA E78K PIK3CA E726K PIK3CA D939G | ||
PIK3CA E545K PIK3CA E726K | ||
PIK3CA E726K PIK3CA H1047R | ||
FGFR3 S249C FGFR3 E587Q FGFR3 amp PIK3CA E726K TSC1 S561fs |