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Gene | PIK3CA |
Variant | E545K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E545K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545K results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E545K PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218303G>A |
cDNA | c.1633G>A |
Protein | p.E545K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218303G>A | c.1633G>A | p.E545K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218303G>A | c.1633G>A | p.E545K | 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 |