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Gene | PIK3CA |
Variant | E545Q |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA E545Q is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545Q results in growth factor-independent cell survival and transformation in culture (PMID: 26627007, 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 E545Q PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545Q |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218303G>C |
cDNA | c.1633G>C |
Protein | p.E545Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218303G>C | c.1633G>C | p.E545Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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