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Gene | PIK3CA |
Variant | G1049R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA G1049R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transforming in cell culture (PMID: 26627007, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA G1049R PIK3CA mutant PIK3CA exon21 PIK3CA G1049R |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234302G>C |
cDNA | c.3145G>C |
Protein | p.G1049R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |