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Gene | PIK3CA |
Variant | R88Q |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA R88Q lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R88Q confers a gain of function to the Pik3ca protein as indicated by increased phosphorylation of downstream targets Akt and S6, increased cell proliferation and migration, and is transforming in culture (PMID: 18829572, PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA R88Q |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199088G>A |
cDNA | c.263G>A |
Protein | p.R88Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA R88Q | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
PIK3CA R88Q PTEN mut | ||
HRAS mut PIK3CA R88Q |