Gene Variant Detail

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Gene PIK3CA
Variant E542V
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA E542V is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542V confers a gain of function on Pik3ca, as indicated by increased phosphorylation of Akt and Mek1/2, growth-factor independent cell survival, and is transforming in culture (PMID: 26627007, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA E542V

PIK3CA mutant PIK3CA exon10 PIK3CA E542X PIK3CA E542V

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Transcript NM_006218.4
gDNA chr3:g.179218295A>T
cDNA c.1625A>T
Protein p.E542V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.5 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
NM_006218 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218295A>T c.1625A>T p.E542V RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218295A>T c.1625A>T p.E542V 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA E542V colorectal cancer predicted - sensitive Cetuximab Case Reports/Case Series Actionable In a retrospective analysis, Erbitux (cetuximab) treatment resulted in stable disease in a colorectal carcinoma patient harboring a PIK3CA E542V mutation (PMID: 25714871). 25714871