Gene Variant Detail

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Gene CHEK2
Variant K135Nfs*26
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions CHEK2 K135Nfs*26 indicates a shift in the reading frame starting at amino acid 135 and terminating 26 residues downstream causing a premature truncation of the 543 amino acid Chek2 protein (UniProt.org). K135Nfs*26 results in reduced Kap1 phosphorylation upon ionizing radiation 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 K135Nfs*26

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Transcript NM_007194.4
gDNA chr22:g.28725284delT
cDNA c.405delA
Protein p.K135Nfs*26
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_007194.4 chr22:g.28725284delT c.405delA p.K135Nfs*26 RefSeq GRCh38/hg38
NM_007194.3 chr22:g.28725284delT c.405delA p.K135Nfs*26 RefSeq GRCh38/hg38
NM_001349956.2 chr22:g.(28712017_28725284) c.(403_483) p.K135Nfs*26 RefSeq GRCh38/hg38
NM_145862.2 chr22:g.28725284delT c.405delA p.K135Nfs*26 RefSeq GRCh38/hg38

Filtering

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  • 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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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries