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Gene | PIK3CA |
Variant | G118D |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA G118D lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). G118D confers a gain of function on the Pik3ca protein as indicated by enhanced lipid kinase activity in cell culture, increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (PMID: 22949682, PMID: 23246288), and increased transformation ability in two different cell lines (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA G118D |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199690G>A |
cDNA | c.353G>A |
Protein | p.G118D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199690G>A | c.353G>A | p.G118D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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