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Gene Symbol CHEK2
Synonyms CDS1 | CHK2 | hCds1 | HuCds1 | LFS2 | PP1425 | RAD53 | TPDS4
Gene Description CHEK2, checkpoint kinase 2, is a serine-threonine protein kinase and a putative tumor suppressor (PMID: 30562755) required for checkpoint-mediated cell cycle arrest and activation of DNA repair and apoptosis in response to DNA damage (PMID: 28553140). CHEK2 alterations are associated with predisposition to certain human cancers, including breast, prostate, kidney, and colon (PMID: 24880342; PMID: 24713400, PMID: 28553140).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
11200 22 22q12.1 NM_007194 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
D293fs frameshift loss of function - predicted CHEK2 D293fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 293 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). D293fs has not been characterized, however, due to the effects of other truncation mutations downstream of D293 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
F202fs frameshift loss of function - predicted CHEK2 F202fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 202 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). F202fs has not been characterized, however, due to the effects of other truncation mutations downstream of F202 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
F292fs frameshift loss of function - predicted CHEK2 F292fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 292 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). F292fs has not been characterized, however, due to the effects of other truncation mutations downstream of F292 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
inact mut unknown loss of function CHEK2 inact mut indicates that this variant results in a loss of function of the Chek2 protein. However, the specific amino acid change has not been identified.
K287fs frameshift loss of function - predicted CHEK2 K287fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 287 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). K287fs has not been characterized, however, due to the effects of other truncation mutations downstream of K287 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
mutant unknown unknown CHEK2 mutant indicates an unspecified mutation in the CHEK2 gene.
N185fs frameshift loss of function - predicted CHEK2 N185fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 185 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). N185fs has not been characterized, however, due to the effects of other truncation mutations downstream of N185 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
Q10fs frameshift loss of function - predicted CHEK2 Q10fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 10 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). Q10fs has not been characterized, however, due to the effects of other truncation mutations downstream of Q10 resulting in disruption of the protein kinase domain (PMID: 11053450, PMID: 16982735, PMID: 31050813), is predicted to lead to a loss of Chek2 protein function.
R523fs frameshift unknown CHEK2 R523fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 523 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). R523fs has been identified in sequencing studies (PMID: 32183364), but has not been biochemically characterized and therefore, its effect on Chek2 protein function is unknown (PubMed, Nov 2023).
T366fs frameshift loss of function - predicted CHEK2 T366fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 366 of 543, likely resulting in premature truncation of the functional protein (UniProt.org). T366fs is predicted to confer a loss of function to the Chek2 protein as demonstrated by loss of kinase activity (PMID: 11053450).
T367fs frameshift loss of function CHEK2 T367fs results in a change in the amino acid sequence of the Chek2 protein beginning at aa 367 of 543, resulting in premature truncation of the functional protein within the kinase domain (UniProt.org). T367fs confers a loss of function to the Chek2 protein as demonstrated by reduced tyrosine phosphorylation in response to DNA damage (PMID: 16982735).
T410fs frameshift loss of function CHEK2 T410fs (corresponds to T367fs in the canonical isoform) results in a change in the amino acid sequence of the Chek2 protein beginning at aa 410 of 586, likely resulting in premature truncation of the functional protein (UniProt.org). T410fs (T367fs) confers a loss of function to the Chek2 protein as demonstrated by reduced tyrosine phosphorylation in response to DNA damage (PMID: 16982735).