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Gene | PIK3CA |
Variant | E418K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E418K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E418K results in increased cell proliferation, migration, and increased phosphorylation of Akt compared to wild-type Pik3ca and is transforming in culture (PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E418K PIK3CA mutant PIK3CA exon8 PIK3CA E418K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210186G>A |
cDNA | c.1252G>A |
Protein | p.E418K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210186G>A | c.1252G>A | p.E418K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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