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Gene CHEK1
Variant T226Nfs*19
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions CHEK1 T226Nfs*19 indicates a shift in the reading frame starting at amino acid 226 and terminating 19 residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). T226Nfs*19 has been identified in sequencing studies (PMID: 36866757), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CHEK1 mutant CHEK1 T226Nfs*19

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Transcript NM_001114121.2
gDNA chr11:g.125635491dupA
cDNA c.676dupA
Protein p.T226Nfs*19
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114122 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001244846 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
XM_024448337.2 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001114122.2 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001114121 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
XM_047426311.1 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001114122.3 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001244846.1 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001274.5 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
XM_017017146 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
XM_024448337.1 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001114121.2 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
NM_001274 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38
XM_017017146.2 chr11:g.125635491dupA c.676dupA p.T226Nfs*19 RefSeq GRCh38/hg38

Filtering

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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")

Sorting

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries