Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
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_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 |
XM_006713658.5 | chr3:g.179218307A>G | c.1637A>G | p.Q546R | RefSeq | GRCh38/hg38 |
XM_011512894 | 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 | 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 | 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 |