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Gene | PIK3CA |
Variant | E542K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E542K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542K results in increased phosphorylation of Akt, growth factor-independent cell survival, and is transforming in cell culture (PMID: 16533766, PMID: 26627007, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E542K PIK3CA mutant PIK3CA exon10 PIK3CA E542X PIK3CA E542K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218294G>A |
cDNA | c.1624G>A |
Protein | p.E542K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218294G>A | c.1624G>A | p.E542K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218294G>A | c.1624G>A | p.E542K | 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 Women With a PI3K Alteration and HR+/Her2- Breast Cancer (Amelia-1) | Recruiting | USA | 0 |
NCT04586335 | Phase I | CYH33 + Olaparib | Study of CYH33 in Combination With Olaparib an Oral PARP Inhibitor in Patients With Advanced Solid Tumors. | Terminated | USA | AUS | 1 |
NCT05154487 | Phase II | Alpelisib + Fulvestrant | A Study of Alpelisib and Fulvestrant to Treat Endometrial Cancer | Recruiting | USA | 0 |