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Gene CHEK2
Variant R117G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 R117G lies within the FHA domain of the Chek2 protein (UniProt.org). R117G confers a loss of function to the Chek2 protein as demonstrated by reduced kinase activity (PMID: 16835864), and results in decreased Kap1 phosphorylation upon ionizing radiation in cell culture (PMID: 34903604).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 R117G

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Transcript NM_007194.4
gDNA chr22:g.28725338T>C
cDNA c.349A>G
Protein p.R117G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_007194 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_145862 chr22:g.28725338T>C c.349A>G p.R117G RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725338T>C c.349A>G p.R117G 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