CHEK2 G14Afs*47
Gene Variant Detail

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Gene CHEK2
Variant G14Afs*47
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 G14Afs*47 indicates a shift in the reading frame starting at amino acid 14 and terminating 47 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). Due to loss of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), G14Afs*47 is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 G14Afs*47

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Transcript NM_007194.4
gDNA chr22:g.28734682delC
cDNA c.41delG
Protein p.G14Afs*47
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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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