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Gene | CHEK2 |
Variant | I157T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CHEK2 I157T lies within the FHA domain of the Chek2 protein (UniProt.org). I157T displays kinase activity similar to wild-type Chek2 in an in vitro assay (PMID: 11053450), but fails to form dimers required for activation (PMID: 19782031) and has impaired binding to several proteins, including BRCA1 in cultured cells (PMID: 12049740), and results in intermediate Kap1 phosphorylation and Chek2 autophosphorylation in culture (PMID: 37449874), 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 I157T |
Transcript | NM_007194.4 |
gDNA | chr22:g.28725099A>G |
cDNA | c.470T>C |
Protein | p.I157T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |