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Gene | PIK3CA |
Variant | P539R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA P539R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). P539R increases the stability of the Pik3ca protein, confers a gain of function, as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 18951408, PMID: 17376864, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA P539R PIK3CA mutant PIK3CA exon10 PIK3CA P539R |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218286C>G |
cDNA | c.1616C>G |
Protein | p.P539R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |