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Gene | PIK3CA |
Variant | Q546K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA Q546K lies within the PIK helical domain of the Pik3ca protein (UniProt.org, PMID: 17376864). Q546K confers a gain of function to Pik3ca as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 17376864, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA Q546K PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218306C>A |
cDNA | c.1636C>A |
Protein | p.Q546K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |