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Gene | PIK3CA |
Variant | N345I |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA N345I lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345I results in increased cell survival, but was not transforming in cell culture in one study (PMID: 26627007), but in two other studies, demonstrated increased transformation ability in multiple cell lines compared to wild-type Pik3ca in culture (PMID: 29533785, PMID: 29636477), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA N345I PIK3CA mutant PIK3CA exon5 PIK3CA N345I |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203764A>T |
cDNA | c.1034A>T |
Protein | p.N345I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179203764A>T | c.1034A>T | p.N345I | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA N345I | breast cancer | resistant | Buparlisib | Preclinical - Cell culture | Actionable | In a preclinical study, breast cancer cells expressing PIK3CA N345I demonstrated resistance to treatment with Buparlisib (BKM120) in culture (PMID: 29636477). | 29636477 |