CHEK2 H143R
Gene Variant Detail

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Gene CHEK2
Variant H143R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CHEK2 H143R lies within the FHA domain of the Chek2 protein (UniProt.org). H143R confers a loss of function to Chek2 as demonstrated by a loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737) and decreased Kap1 phosphorylation and Chek2 autophosphorylation in CHEK2-null cells in culture (PMID: 37449874).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 H143R

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Transcript NM_007194.4
gDNA chr22:g.28725259T>C
cDNA c.428A>G
Protein p.H143R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_145862.2 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_145862 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_001349956.1 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
XM_011529843 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.28725259T>C c.428A>G p.H143R RefSeq GRCh38/hg38
NM_007194 chr22:g.28725259T>C c.428A>G p.H143R 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