CHEK2 R181C
Gene Variant Detail

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Gene CHEK2
Variant R181C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CHEK2 R181C does not lie within any known functional domains of the Chek2 protein (UniProt.org). R181C results in kinase activity similar to wild-type Chek2 in a kinase assay and in cultured cells (PMID: 31050813) and Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type in CHEK2-null cells in culture (PMID: 37449874), but decreased Chek2 kinase activity in an in vitro assay in another study (PMID: 16835864), and decreased DNA damage response in yeast (PMID: 22419737), and therefore, its effect on Chek2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 R181C

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Transcript NM_007194.4
gDNA chr22:g.28725028G>A
cDNA c.541C>T
Protein p.R181C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28725028G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725028G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725028G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725028G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_145862 chr22:g.28725028G>A c.541C>T p.R181C RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725028G>A c.541C>T p.R181C 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References