CHEK2 S422Vfs*15
Gene Variant Detail

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Gene CHEK2
Variant S422Vfs*15
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 S422Vfs*15 indicates a shift in the reading frame starting at amino acid 422 and terminating 15 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). S422Vfs*15 results in decreased Kap1 phosphorylation at (S)-473 in cell culture (PMID: 34903604), 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 S422Vfs*15

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Transcript NM_007194.4
gDNA chr22:g.28695238delT
cDNA c.1264delA
Protein p.S422Vfs*15
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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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