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Gene | PIK3CA |
Variant | E674Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E674Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E674Q has been identified in the scientific literature (PMID: 25349966, PMID: 28760909), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA E674Q |
Transcript | NM_006218.4 |
gDNA | chr3:g.179220990G>C |
cDNA | c.2020G>C |
Protein | p.E674Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179220990G>C | c.2020G>C | p.E674Q | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179220990G>C | c.2020G>C | p.E674Q | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179220990G>C | c.2020G>C | p.E674Q | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179220990G>C | c.2020G>C | p.E674Q | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179220990G>C | c.2020G>C | p.E674Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA E542Q PIK3CA E674Q | urinary bladder cancer | sensitive | Alpelisib + Nintedanib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, combination treatment with Ofev (nintedanib) and Piqray (alpelisib) led to synergistic inhibition of growth in bladder cancer cell lines harboring PIK3CA E542Q and PIK3CA E674Q in culture, and led to inhibition of tumor growth in a cell line xenograft model (PMID: 36805958). | 36805958 |
PIK3CA E542Q PIK3CA E674Q | urinary bladder cancer | sensitive | Nintedanib + Pictilisib | Preclinical - Cell culture | Actionable | In a preclinical study, combination treatment with Ofev (nintedanib) and Pictilisib (GDC-0941) inhibited cell proliferation in a bladder cancer cell line harboring PIK3CA E542Q and PIK3CA E674Q in culture (PMID: 36805958). | 36805958 |
PIK3CA E542K PIK3CA E674Q | urinary bladder cancer | sensitive | MK2206 | Preclinical - Cell culture | Actionable | In a preclinical study, MK2206 increased apoptosis and inhibited viability in a bladder cancer cell line harboring PIK3CA E542K and E674Q in culture (PMID: 25349966). | 25349966 |