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Gene | PIK3CA |
Variant | E365K |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA E365K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E365K results in increased phosphorylation of downstream targets Akt, GSK3-beta, FoxO1, FoxO3a, and S6 in cell culture (PMID: 18829572, PMID: 21266528), and in one of two cell lines, increased cell proliferation and cell viability compared to wild-type Pik3ca in culture (PMID: 29533785), 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 E365K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179204536G>A |
cDNA | c.1093G>A |
Protein | p.E365K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179204536G>A | c.1093G>A | p.E365K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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