Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | CHEK1 |
| Variant | S193Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CHEK1 S193Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). S193Y has been identified in sequencing studies (PMID: 34568053), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CHEK1 mutant CHEK1 S193Y |
| Transcript | NM_001114122.3 |
| gDNA | chr11:g.125633316C>A |
| cDNA | c.578C>A |
| Protein | p.S193Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001114122.3 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| XM_047426311.1 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001274.5 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| XM_024448337.2 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001114122.2 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001114121.2 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001274.5 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001114121.2 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| XM_024448337.1 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001244846.1 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| NM_001244846.1 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| XM_017017146.2 | chr11:g.125633316C>A | c.578C>A | p.S193Y | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|