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| Gene | PIK3CA |
| Variant | Q546R |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA Q546R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546R results in increased cell proliferation, migration, and Akt phosphorylation (PMID: 34779417) and increased cell survival and transforming ability in culture (PMID: 26627007, PMID: 29533785, PMID: 34779417). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA Q546R PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546R |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179218307A>G |
| cDNA | c.1637A>G |
| Protein | p.Q546R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011512894 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PIK3CA Q546R | prostate cancer | sensitive | MEN1611 | Preclinical | Actionable | In a preclinical study, MEN1611 (CH5132799) inhibited proliferation of prostate cancer cells harboring PIK3CA Q546R in culture (PMID: 21558396). | 21558396 |