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Gene | PIK3CA |
Variant | N345K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA N345K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345K results in increased phosphorylation of Akt, activation of downstream signaling, increased cell proliferation and migration, and is transforming in cell culture (PMID: 17376864, PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA N345K PIK3CA mutant PIK3CA exon5 PIK3CA N345K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203765T>G |
cDNA | c.1035T>G |
Protein | p.N345K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
NCT05154487 | Phase II | Alpelisib + Fulvestrant | A Study of Alpelisib and Fulvestrant to Treat Endometrial Cancer | Recruiting | USA | 0 |