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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 |