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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 |
---|---|---|---|---|---|
XM_006713658 | 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 |
XM_011512894.2 | chr3:g.179203765T>G | c.1035T>G | p.N345K | RefSeq | GRCh38/hg38 |
NM_006218.4 | 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_006713658.5 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FGFR2 T319I PIK3CA N345K PIK3CA E453K | Her2-receptor negative breast cancer | predicted - resistant | Inavolisib | Case Reports/Case Series | Actionable | In a clinical case study, FGFR2 T319I was identified in circulating tumor DNA at the time of progression on Inavolisib (GDC-0077) in a patient with ESR1-positive, ERBB2 (HER2)-negative breast cancer harboring PIK3CA N345K and E453K (PMID: 37916958). | 37916958 |