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Gene | CHEK2 |
Variant | I160M |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK2 I160M lies within the FHA domain of the Chek2 protein (UniProt.org). I160M results in decreased Chek2-mediated DNA damage response in yeast (PMID: 22419737) but Kap1 phosphorylation and Chek2 autophosphorylation similar to wild-type Chek2 in CHEK2-null cells in culture (PMID: 37449874), and therefore, its effect on Chek2 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CHEK2 mutant CHEK2 I160M |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725089T>C |
cDNA | c.480A>G |
Protein | p.I160M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |