CHEK2 I157T
Gene Variant Detail

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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

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Transcript NM_007194.4
gDNA chr22:g.28725099A>G
cDNA c.470T>C
Protein p.I157T
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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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")

Sorting

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