Gene Variant Detail

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Gene PIK3CA
Variant E542Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PIK3CA E542Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542Q results in cell proliferation and cell viability similar to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA exon10 PIK3CA E542X PIK3CA E542Q

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Transcript NM_006218.4
gDNA chr3:g.179218294G>C
cDNA c.1624G>C
Protein p.E542Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
NM_006218 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218294G>C c.1624G>C p.E542Q RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218294G>C c.1624G>C p.E542Q 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