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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 |
| NM_006218.4 | 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 | 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 |
| XM_006713658.4 | 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_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 Patients 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 |