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Gene | PIK3CA |
Variant | H1047R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA H1047R is a hotspot mutation that lies within the kinase domain of the Pik3ca protein (UniProt.org). H1047R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA H1047R PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047R |
Transcript | NM_006218.4 |
gDNA | chr3:g.179234297A>G |
cDNA | c.3140A>G |
Protein | p.H1047R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179234297A>G | c.3140A>G | p.H1047R | RefSeq | GRCh38/hg38 |