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Gene Symbol CHEK1
Synonyms CHK1 | OZEMA21
Gene Description CHEK1, checkpoint kinase 1, is a serine/threonine kinase activated in response to DNA damage that is responsible for mediating checkpoint signaling from ATM and ATR (PMID: 23613359, PMID: 12781359). Overexpression of Chek1 has been observed in several tumor types, including gastric cancer, small cell lung cancer, T-cell leukemia (PMID: 25132270, PMID: 26867682, PMID: 28490518), and breast cancer (PMID: 31933717).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
1111 11 11q24.2 NM_001114121 Unknown

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
act mut unknown gain of function CHEK1 act mut indicates that this variant results in a gain of function in the Chek1 protein. However, the specific amino acid change has not been identified.
H243fs frameshift unknown CHEK1 H243fs results in a change in the amino acid sequence of the Chek1 protein beginning at aa 243 of 476, likely resulting in premature truncation of the functional protein (UniProt.org). H243fs has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
inact mut unknown loss of function CHEK1 inact mut indicates that this variant results in a loss of function of the Chek1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown CHEK1 mutant indicates an unspecified mutation in the CHEK1 gene.
P238fs frameshift unknown CHEK1 P238fs results in a change in the amino acid sequence of the Chek1 protein beginning at aa 238 of 476, likely resulting in premature truncation of the functional protein (UniProt.org). P238fs has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).