CHEK2 E239K
Gene Variant Detail

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Gene CHEK2
Variant E239K
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 E239K lies within the protein kinase domain of the Chek2 protein (UniProt.org). E239K results in Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type Chek2 in culture (PMID: 37449874) and Chek2 expression similar to wild-type in culture in one study (PMID: 31780696), but confers a loss of function to Chek2 as demonstrated by reduced Chek2-mediated DNA damage repair in yeast (PMID: 22419737), and decreased Chek2 protein expression and phosphorylation in cultured cells (PMID: 33606978), and decreased kinase activity in an in vitro assay (PMID: 31780696).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 E239K

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Transcript NM_007194.4
gDNA chr22:g.28711986C>T
cDNA c.715G>A
Protein p.E239K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28711986C>T c.715G>A p.E239K RefSeq GRCh38/hg38
XM_011529841 chr22:g.28711914C>T c.715G>A p.E239K RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711986C>T c.715G>A p.E239K RefSeq GRCh38/hg38
XM_011529841.1 chr22:g.28711914C>T c.715G>A p.E239K RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28711986C>T c.715G>A p.E239K RefSeq GRCh38/hg38
NM_145862 chr22:g.28711986C>T c.715G>A p.E239K RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28711986C>T c.715G>A p.E239K RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28711986C>T c.715G>A p.E239K 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries