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Gene | PIK3CA |
Variant | E547K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PIK3CA E547K is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (PMID: 27177864). E547K results in decreased cell viability compared to wild-type Pik3ca in one of two cell lines in culture (PMID: 29533785), but has not been biochemically characterized, and therefore, its effect on Pik3ca protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon10 PIK3CA E547K |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218309G>A |
cDNA | c.1639G>A |
Protein | p.E547K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.4 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218309G>A | c.1639G>A | p.E547K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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