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Gene | CHEK2 |
Variant | G167R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CHEK2 G167R lies within the FHA domain of the Chek2 protein (UniProt.org). G167R results in a loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737), reduced Kap1 phosphorylation (PMID: 34903604, PMID: 37449874), decreased Chek2 protein stability (PMID: 34903604), and decreased Chek2 autophosphorylation in culture (PMID: 37449874). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 G167R |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725070C>T |
cDNA | c.499G>A |
Protein | p.G167R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |