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PIK3CA E545G - Gene Variant Detail

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Gene PIK3CA
Variant E545G
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA E545G is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545G 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 E545G

PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545G

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Transcript NM_006218.4
gDNA chr3:g.179218304A>G
cDNA c.1634A>G
Protein p.E545G
Source Database RefSeq
Genome Build GRCh38/hg38

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