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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, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CHEK1 mutant CHEK1 T226Nfs*19 |
| Transcript | NM_001114122.3 |
| 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_001274 | 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_001114121.2 | chr11:g.125635491dupA | c.676dupA | p.T226Nfs*19 | RefSeq | GRCh38/hg38 |
| XM_017017146 | 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_047426311.1 | 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_001114121.2 | 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 |
| NM_001114122 | 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_001114122.2 | 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 |
| NM_001244846.1 | 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 | 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 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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