Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | PIK3CA |
| Variant | E453K |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA E453K lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453K results in increased phosphorylation of Akt and Mek1/2, enhanced cell survival, increased cell proliferation and migration, and is transforming in culture (PMID: 26627007, PMID: 29533785, PMID: 34779417). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E453K PIK3CA mutant PIK3CA exon8 PIK3CA E453K |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179210291G>A |
| cDNA | c.1357G>A |
| Protein | p.E453K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658.4 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179210291G>A | c.1357G>A | p.E453K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PIK3CA E453K | gain of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor |
| PIK3CA E453K PIK3CA E545A | ||
| FGFR2 T319I PIK3CA N345K PIK3CA E453K | ||
| PIK3CA E453K PIK3CA H1047R | ||
| PIK3CA E418K PIK3CA E453K |