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Gene CHEK2
Variant E275*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 E275* results in a premature truncation within the protein kinase domain of the Chek2 protein at amino acid 275 of 543 (UniProt.org). E275* has not been characterized, however, due to the effects of other truncation mutations downstream of E275 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 E275*

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Transcript NM_007194.4
gDNA chr22:g.28710029C>A
cDNA c.823G>T
Protein p.E275*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28710029C>A c.823G>T p.E275* RefSeq GRCh38/hg38
NM_145862 chr22:g.28710029C>A c.823G>T p.E275* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28710029C>A c.823G>T p.E275* RefSeq GRCh38/hg38
NM_007194 chr22:g.28710029C>A c.823G>T p.E275* RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28710029C>A c.823G>T p.E275* RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28710029C>A c.823G>T p.E275* RefSeq 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")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries