CHEK2 T367fs
Gene Variant Detail

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Gene CHEK2
Variant T367fs
Impact List frameshift
Protein Effect loss of function
Gene Variant Descriptions CHEK2 T367fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 367 of 543, resulting in premature truncation of the functional protein within the kinase domain (UniProt.org). T367fs results in decreased protein stability and reduced Chk2 phosphorylation in response to DNA damage (PMID: 16982735), and loss of Kap1 phosphorylation at serine (S)-473 in in vitro assays and in cell culture (PMID: 31050813, PMID: 34903604), and loss of kinase activity in an in vitro assay (PMID: 11053450).
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 T367fs

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Transcript NM_007194.4
gDNA chr22:g.(28695870_28695871)
cDNA c.(1099_1098)
Protein p.T367fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.(28695870_28695871) c.(1099_1098) p.T367fs RefSeq GRCh38/hg38
NM_007194.4 chr22:g.(28695870_28695871) c.(1099_1098) p.T367fs RefSeq GRCh38/hg38
NM_007194 chr22:g.(28695870_28695871) c.(1099_1098) p.T367fs RefSeq GRCh38/hg38

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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")

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