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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 does not result in activation of Akt in culture in one study (PMID: 34779417) but confers a gain of function to the Pik3ca protein as indicated by increased phosphorylation of downstream targets, including Akt and S6 (PMID: 18829572), increased cell proliferation and migration (PMID: 34779417), and transformation in culture (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_006713658 | 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 |
| NM_006218.4 | 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 |
| NM_006218.3 | 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 |
| XM_006713658.5 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179199088G>A | c.263G>A | p.R88Q | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT05455619 | Phase Ib/II | Capivasertib + Fulvestrant + SDX-7320 Alpelisib + Fulvestrant + SDX-7320 | Evexomostat Plus PI3K or AKT Inhibitor and Fulvestrant in Patients With a PI3K Alteration and HR+/ Her2- Breast Cancer (Amelia-1) | Recruiting | USA | 0 |