PIK3CA E109_I112delinsD
Gene Variant Detail

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Gene PIK3CA
Variant E109_I112delinsD
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA E109_I112delinsD results in a deletion of four amino acids from amino acid 109 to 112 of the Pik3ca protein, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). E109_I112delinsD 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 E109_I112delinsD

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Transcript NM_006218.4
gDNA chr3:g.179199152_179199160delAGAAAAGAT
cDNA c.327_335delAGAAAAGAT
Protein p.E109_I112delinsD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
XM_006713658 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
NM_006218 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179199152_179199160delAGAAAAGAT c.327_335delAGAAAAGAT p.E109_I112delinsD RefSeq GRCh38/hg38

Filtering

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