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Gene | CHEK1 |
Variant | T226Hfs*14 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | CHEK1 T226Hfs*14 indicates a shift in the reading frame starting at amino acid 226 and terminating 14 residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). T226Hfs*14 has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, May 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK1 mutant CHEK1 T226Hfs*14 |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125635491delA |
cDNA | c.676delA |
Protein | p.T226Hfs*14 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001114121 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
XM_024448337.1 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
XM_017017146 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001244846.1 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001114122 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001114122.3 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001274 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
XM_047426311.1 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
XM_017017146.2 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001114121.2 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001114122.2 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001274.5 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
XM_024448337.2 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
NM_001244846 | chr11:g.125635491delA | c.676delA | p.T226Hfs*14 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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