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Gene | PIK3CA |
Variant | E545D |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA E545D is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545D results in increased transformation ability in two different cell lines in culture (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 E545D PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545D |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218305G>C |
cDNA | c.1635G>C |
Protein | p.E545D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |