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Gene CHEK2
Variant R145W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 R145W lies in the FHA domain of the Chek2 protein (UniProt.org). R145W results in decreased Kap1 phosphorylation upon ionizing radiation, decreased Chek2 protein stability compared to wild-type Chek2 (PMID: 34903604), reduced Chek2 kinase activity and impaired activation by gamma irradiation in cell-based assays (PMID: 11053450), and fails to bind several proteins, including BRCA1 in pull-down assays (PMID: 12049740).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R145W

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Transcript NM_007194.4
gDNA chr22:g.28725254G>A
cDNA c.433C>T
Protein p.R145W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_145862 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725254G>A c.433C>T p.R145W RefSeq GRCh38/hg38

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  • 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