Gene Variant Detail

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Gene CHEK2
Variant F475Lfs*7
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 F475Lfs*7 indicates a shift in the reading frame starting at amino acid 475 and terminating 7 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). F475Lfs*7 is predicted to confer a loss of function to the Chek2 protein as demonstrated by a loss of kinase activity in an in vitro assay (PMID: 11053450).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 F475Lfs*7

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Transcript NM_007194.4
gDNA chr22:g.28694071delA
cDNA c.1425delT
Protein p.F475Lfs*7
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194 chr22:g.28694071delA c.1425delT p.F475Lfs*7 RefSeq GRCh38/hg38
NM_007194.4 chr22:g.28694071delA c.1425delT p.F475Lfs*7 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28694071delA c.1425delT p.F475Lfs*7 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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