Gene Variant Detail

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Gene CHEK1
Variant I234Sfs*6
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CHEK1 I234Sfs*6 indicates a shift in the reading frame starting at amino acid 234 and terminating six residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). I234Sfs*6 has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 I234Sfs*6

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Transcript NM_001114121.2
gDNA chr11:g.125635515delA
cDNA c.700delA
Protein p.I234Sfs*6
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114121.2 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001330427.2 chr11:g.125644170_125644171insGCCCCCCCCCCAA c.700_701insGCCCCCCCCCCAA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125635515delA c.700delA p.I234Sfs*6 RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125635515delA c.700delA p.I234Sfs*6 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

  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries