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Gene | PIK3CA |
Variant | E103_G106delinsD |
Impact List | indel |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA E103_G106delinsD results in a deletion of four amino acids in the PI3K-ABD domain of the Pik3ca protein from amino acid 103 to 106, combined with the insertion of an aspartic acid (D) at the same site (UniProt.org). E103_G106delinsD 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_G106delinsD |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199134_179199142delACCAGTAGG |
cDNA | c.309_317delACCAGTAGG |
Protein | p.E103_G106delinsD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199134_179199142delACCAGTAGG | c.309_317delACCAGTAGG | p.E103_G106delinsD | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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