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 | E453A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA E453A lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453A confers a gain of function to Pik3ca, as indicated by increased Akt phosphorylation in cell culture (PMID: 21266528) and increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E453A PIK3CA mutant PIK3CA exon8 PIK3CA E453A |
Transcript | NM_006218.4 |
gDNA | chr3:g.179210292A>C |
cDNA | c.1358A>C |
Protein | p.E453A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179210292A>C | c.1358A>C | p.E453A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|