Gene Variant Detail

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Gene PIK3CA
Variant E469delinsDK
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA E469delinsDK results in the deletion of a glutamic acid (E) at amino acid 469 within the C2 PI3K-type domain of the Pik3ca protein, combined with the insertion of an aspartic acid (D) and lysine (K) at the same site (UniProt.org). E469delinsDK 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 E469delinsDK

PIK3CA mutant PIK3CA exon9 PIK3CA E469delinsDK

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Transcript NM_006218.4
gDNA chr3:g.179210431_179210433delinsGACAAG
cDNA c.1405_1407delinsGACAAG
Protein p.E469_469delinsDK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894.2 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
NM_006218 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
XM_006713658 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179210431_179210433delinsGACAAG c.1405_1407delinsGACAAG p.E469_469delinsDK RefSeq GRCh38/hg38

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