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Gene CHEK2
Variant T367Mfs*15
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions CHEK2 T367Mfs*15 indicates a shift in the reading frame starting at amino acid 367 and terminating 15 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). T367Mfs*15 results in reduced tyrosine phosphorylation in response to DNA damage (PMID: 16982735), loss of Kap1 phosphorylation at serine (S)-473 compared to wild-type Chek2 in in vitro assays and in cell culture (PMID: 31050813, PMID: 34903604).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 T367fs CHEK2 T367Mfs*15

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Transcript NM_007194.4
gDNA chr22:g.28695869delG
cDNA c.1100delC
Protein p.T367Mfs*15
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28695869delG c.1100delC p.T367Mfs*15 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28695869delG c.1100delC p.T367Mfs*15 RefSeq GRCh38/hg38
NM_007194 chr22:g.28695869delG c.1100delC p.T367Mfs*15 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

  • 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References