Gene Variant Detail

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Gene PIK3CA
Variant Q546E
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA Q546E lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546E has not been biochemically characterized, but results in increased cell survival and transforming ability in cell culture (PMID: 26627007, PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA Q546E

PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546E

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Transcript NM_006218.3
gDNA chr3:g.179218306C>G
cDNA c.1636C>G
Protein p.Q546E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894.2 chr3:g.179218306C>G c.1636C>G p.Q546E RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218306C>G c.1636C>G p.Q546E RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218306C>G c.1636C>G p.Q546E RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218306C>G c.1636C>G p.Q546E RefSeq GRCh38/hg38
NM_006218 chr3:g.179218306C>G c.1636C>G p.Q546E RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218306C>G c.1636C>G p.Q546E 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References