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| Gene | PIK3CA |
| Variant | E545A |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA E545A is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545A confers a gain of function on the Pik3ca protein as demonstrated by increased phosphorylation of Akt and transformation in cell culture (PMID: 17376864, PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E545A PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545A |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179218304A>C |
| cDNA | c.1634A>C |
| Protein | p.E545A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179218304A>C | c.1634A>C | p.E545A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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