Gene Variant Detail

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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 exon8 PIK3CA E453A

PIK3CA mutant PIK3CA act mut PIK3CA E453A

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Transcript NM_006218.3
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_006713658 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_006713658.4 chr3:g.179210292A>C c.1358A>C p.E453A RefSeq GRCh38/hg38
XM_011512894 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
XM_011512894.2 chr3:g.179210292A>C c.1358A>C p.E453A 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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
PIK3CA E453A gain of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor