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Gene PIK3CA
Variant E453Q
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA E453Q lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). E453Q confers a gain of function to Pik3ca as indicated by increased lipid kinase activity in cell culture (PMID: 15930273) and demonstrates 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 exon8 PIK3CA E453Q

PIK3CA mutant PIK3CA act mut PIK3CA E453Q

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Transcript NM_006218.4
gDNA chr3:g.179210291G>C
cDNA c.1357G>C
Protein p.E453Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
XM_006713658 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
NM_006218 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
PIK3CA E453Q gain of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor
PIK3CA E453Q PIK3CA H1047R