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Gene CHEK2
Variant D293fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 D293fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 293 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). D293fs has not been characterized, however, due to the effects of other truncation mutations downstream of D293 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 D293fs

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Transcript NM_007194.4
gDNA chr22:g.(28703536_28703537)
cDNA c.(877_876)
Protein p.D293fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.(28703536_28703537) c.(877_876) p.D293fs RefSeq GRCh38/hg38
NM_007194.3 chr22:g.(28703536_28703537) c.(877_876) p.D293fs RefSeq GRCh38/hg38
NM_145862.2 chr22:g.(28703536_28703537) c.(877_876) p.D293fs RefSeq GRCh38/hg38
NM_145862.2 chr22:g.(28703536_28703537) c.(877_876) p.D293fs RefSeq 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References