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Gene | PIK3CA |
Variant | Q546E |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA Q546E lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546E results in increased cell survival and transforming ability in culture (PMID: 26627007, PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA Q546E PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546E |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218306C>G |
cDNA | c.1636C>G |
Protein | p.Q546E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |