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Gene | PIK3CA |
Variant | E110del |
Impact List | deletion |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA E110del results in the deletion of an amino acid in the Pik3ca protein at amino acid 110 (UniProt.org). E110del results in Akt phosphorylation similar to wild-type Pik3ca (PMID: 34779417), but leads to increased cell proliferation and migration (PMID: 34779417) and transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417), 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 E110del |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199153_179199155delGAA |
cDNA | c.328_330delGAA |
Protein | p.E110delE |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110delE | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110del | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110del | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110del | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110del | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110del | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110delE | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199153_179199155delGAA | c.328_330delGAA | p.E110del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E110del | gain of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |