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Gene | PIK3CA |
Variant | K111E |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA K111E lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). K111E confers a gain of function on the Pik3ca protein as indicated by increased lipid kinase activity and phosphorylation of Akt in cell culture (PMID: 22949682, PMID: 21266528), increased cell proliferation and migration, and is transforming in culture (PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA K111E |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199156A>G |
cDNA | c.331A>G |
Protein | p.K111E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199156A>G | c.331A>G | p.K111E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA K111E | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |