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Gene | CHEK2 |
Variant | T59K |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 T59K does not lie within any known functional domains of the Chek2 protein (UniProt.org). T59K results in Chek2 autophosphorylation similar to wild-type Chek2 in culture (PMID: 37449874), but intermediate Kap1 phosphorylation in culture (PMID: 37449874) and loss of Chek2-mediated DNA damage response in yeast (PMID: 22419737), and therefore, is predicted to lead to a loss of Chek2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 inact mut CHEK2 T59K |
Transcript | NM_007194.4 |
gDNA | chr22:g.28734546G>T |
cDNA | c.176C>A |
Protein | p.T59K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |