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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 |