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Gene CHEK2
Variant F292fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 F292fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 292 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). F292fs has not been characterized, however, due to the effects of other truncation mutations downstream of F292 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
Associated Drug Resistance
Category Variants Paths

CHEK2 mutant CHEK2 inact mut CHEK2 F292fs

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Transcript NM_007194.4
gDNA chr22:g.(28703539_28703540)
cDNA c.(874_873)
Protein p.F292fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.3 chr22:g.(28703539_28703540) c.(874_873) p.F292fs RefSeq GRCh38/hg38
NM_145862.2 chr22:g.(28703539_28703540) c.(874_873) p.F292fs RefSeq GRCh38/hg38
NM_007194 chr22:g.(28703539_28703540) c.(874_873) p.F292fs RefSeq GRCh38/hg38
NM_145862 chr22:g.(28703539_28703540) c.(874_873) p.F292fs RefSeq GRCh38/hg38
NM_145862.2 chr22:g.(28703539_28703540) c.(874_873) p.F292fs RefSeq GRCh38/hg38
NM_007194.4 chr22:g.(28703539_28703540) c.(874_873) p.F292fs 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries