Gene Variant Detail

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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

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Transcript NM_006218
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
NM_006218 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_006713658 chr3:g.179210291G>C c.1357G>C p.E453Q RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA E453Q PIK3CA H1047R breast cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E543Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E453Q PIK3CA H1047R breast cancer sensitive Everolimus Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E453Q PIK3CA H1047R breast cancer sensitive GDC-0077 Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E453Q and PIK3CA H1047R in cis demonstrated increased sensitivity to growth inhibition by GDC-0077 treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932