CHEK2 D265_H282del
Gene Variant Detail

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Gene CHEK2
Variant D265_H282del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions CHEK2 D265_H282del results in the deletion of 18 amino acids within the protein kinase domain of the Chek2 protein from amino acids 265 to 282 (UniProt.org). D265_H282del results in a loss of Kap1 phosphorylation at serine (S)-473 as compared to wild-type Chek2 in in vitro assays and in cell culture (PMID: 31050813).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 D265_H282del

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Transcript NM_007194.4
gDNA chr22:g.28710006_28710059del54
cDNA c.794_846+1del54
Protein p.D265_H282del18
Source Database RefSeq
Genome Build GRCh38/hg38

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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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