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Gene PIK3CA
Variant E103_P104del
Impact List deletion
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA E103_P104del results in the deletion of two amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acids 103 to 104 (UniProt.org). E103_P104del 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 E103_P104del

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Transcript NM_006218.4
gDNA chr3:g.179199133_179199138delAACCAG
cDNA c.308_313delAACCAG
Protein p.E103_P104delEP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
XM_006713658 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179199133_179199138delAACCAG c.308_313delAACCAG p.E103_P104delEP RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References