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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, May 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CHEK1 mutant CHEK1 S193Y |
Transcript | NM_001114121.2 |
gDNA | chr11:g.125633316C>A |
cDNA | c.578C>A |
Protein | p.S193Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |