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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.
D130Y missense unknown CHEK1 D130Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). D130Y has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
D235N missense unknown CHEK1 D235N lies within the protein kinase domain of the Chek1 protein (UniProt.org). D235N has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
D235Y missense unknown CHEK1 D235Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). D235Y has been identified in sequencing studies (PMID: 22510280), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
D336* nonsense gain of function CHEK1 D336* results in a premature truncation of the Chek1 protein at amino acid 336 of 476 (UniProt.org). D336* confers a gain of function to the Chek1 protein as demonstrated by increased autophosphorylation and phosphorylation of Cdc25c in in vitro assays, and delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223).
D336N missense unknown CHEK1 D336N does not lie within any known functional domains of the Chek1 protein (UniProt.org). D336N has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
D8N missense unknown CHEK1 D8N lies within the CLSPN-interacting region of the Chk1 protein (UniProt.org). D8N has been identified in sequencing studies (PMID: 33692861), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
del deletion loss of function CHEK1 del indicates a deletion of the CHEK1 gene.
E223_T226delinsA indel unknown CHEK1 E223_T226delinsA results in a deletion of four amino acids from aa 223 to 226 within the protein kinase domain of the Chek1 protein, combined with the insertion of an Alanine (A) at the same site (UniProt.org). E223_T226delinsA has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
E309* nonsense unknown CHEK1 E309* results in a premature truncation of the Chek1 protein at amino acid 309 of 476 (UniProt.org). E309* results in autophosphorylation and phosphorylation of Cdc25c similar to wild-type Chek1 levels in in vitro assays, however, also demonstrates delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223), and therefore, its effect on Chek1 protein function is unknown.
E309K missense unknown CHEK1 E309K does not lie within any known functional domains of the Chek1 protein (UniProt.org). E309K has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
E32D missense unknown CHEK1 E32D lies within the protein kinase domain of the Chek1 protein (UniProt.org). E32D has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
F93V missense unknown CHEK1 F93V lies within the protein kinase domain of the Chek1 protein (UniProt.org). F93V has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
G169S missense unknown CHEK1 G169S lies within the protein kinase domain of the Chek1 protein (UniProt.org). G169S has been identified in sequencing studies (PMID: 26168399, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
G195R missense unknown CHEK1 G195R lies within the protein kinase domain of the Chek1 protein (UniProt.org). G195R has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
G21R missense unknown CHEK1 G21R lies within the protein kinase domain of the Chek1 protein (UniProt.org). G21R has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
G289* nonsense unknown CHEK1 G289* results in a premature truncation of the Chek1 protein at amino acid 289 of 476 (UniProt.org). G289* has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
H122Y missense unknown CHEK1 H122Y lies within the protein kinase domain of the Chek1 protein (UniProt.org). H122Y has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
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).
H352* nonsense gain of function CHEK1 H352* results in a premature truncation of the Chek1 protein at amino acid 352 of 476 (UniProt.org). H352* confers a gain of function to the Chek1 protein as demonstrated by increased autophosphorylation and phosphorylation of Cdc25c in in vitro assays, and delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223).
I234Sfs*6 frameshift unknown CHEK1 I234Sfs*6 indicates a shift in the reading frame starting at amino acid 234 and terminating six residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). I234Sfs*6 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.
K232N missense unknown CHEK1 K232N lies within the protein kinase domain of the Chek1 protein (UniProt.org). K232N has been identified in sequencing studies (PMID: 23917401), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
K233T missense unknown CHEK1 K233T lies within the protein kinase domain of the Chek1 protein (UniProt.org). K233T has been identified in sequencing studies (PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
K470* nonsense unknown CHEK1 K470* results in a premature truncation of the Chek1 protein at amino acid 470 of 476 (UniProt.org). K470* has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
L136F missense unknown CHEK1 L136F lies within the protein kinase domain of the Chek1 protein (UniProt.org). L136F has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
L338S missense unknown CHEK1 L338S does not lie within any known functional domains of the Chek1 protein (UniProt.org). L338S has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
L360F missense unknown CHEK1 L360F does not lie within any known functional domains of the Chek1 protein (UniProt.org). L360F has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
M1? unknown unknown CHEK1 M1? indicates a disruption of the methionine (M) start codon with an unknown translational effect on the Chek1 protein. M1? has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
mutant unknown unknown CHEK1 mutant indicates an unspecified mutation in the CHEK1 gene.
over exp none no effect CHEK1 over exp indicates an over expression of the Chek1 protein and/or mRNA. However, the mechanism causing the over expression is unspecified.
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).
positive unknown unknown CHEK1 positive indicates the presence of the CHEK1 gene, mRNA, and/or protein.
R141S missense unknown CHEK1 R141S lies within the protein kinase domain of the Chek1 protein (UniProt.org). R141S has not been characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
R156W missense unknown CHEK1 R156W lies within the protein kinase domain of the Chek1 protein (UniProt.org). R156W has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
R160C missense unknown CHEK1 R160C lies within the protein kinase domain of the Chek1 protein (UniProt.org). R160C has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
R160H missense unknown CHEK1 R160H lies within the protein kinase domain of the Chek1 protein (UniProt.org). R160H has been identified in the scientific literature (PMID: 23917401, PMID: 26674132, PMID: 34789479), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
R379* nonsense loss of function - predicted CHEK1 R379* results in a premature truncation of the Chek1 protein at amino acid 379 of 476 (UniProt.org). R379* has not been biochemically characterized, however, due to the effects of other truncation mutations downstream of R379 (PMID: 14681223), is predicted to lead to a loss of Chek1 protein function.
R419S missense unknown CHEK1 R419S lies within the autoinhibitory region of the Chek1 protein (UniProt.org). R419S has been identified in the scientific literature (PMID: 28972186), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
R442W missense unknown CHEK1 R442W lies within the autoinhibitory region of the Chek1 protein (UniProt.org). R442W has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
S193Y missense unknown 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, Oct 2023).
S284* nonsense unknown CHEK1 S284* results in a premature truncation of the Chek1 protein at amino acid 284 of 476 (UniProt.org). S284* results in loss of autophosphorylation and decreased phosphorylation of Cdc25c in in vitro assays, however, also demonstrates delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223), and therefore, its effect on Chek1 protein function is unknown.
S284L missense unknown CHEK1 S284L does not lie within any known functional domains of the Chek1 protein (UniProt.org). S284L has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
S296F missense unknown CHEK1 S296F does not lie within any known functional domains of the Chek1 protein (UniProt.org). S296F has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
S366* nonsense gain of function CHEK1 S366* results in a premature truncation of the Chek1 protein at amino acid 366 of 476 (UniProt.org). S366* confers a gain of function to the Chek1 protein as demonstrated by increased autophosphorylation and phosphorylation of Cdc25c in in vitro assays, and delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223).
T226Hfs*14 frameshift unknown 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, Nov 2023).
T226Nfs*19 frameshift unknown CHEK1 T226Nfs*19 indicates a shift in the reading frame starting at amino acid 226 and terminating 19 residues downstream causing a premature truncation of the 476 amino acid Chek1 protein (UniProt.org). T226Nfs*19 has been identified in sequencing studies (PMID: 36866757), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
V312M missense unknown CHEK1 V312M does not lie within any known functional domains of the Chek1 protein (UniProt.org). V312M has been identified in sequencing studies (PMID: 17344846), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
V439L missense unknown CHEK1 V439L lies within the autoinhibitory region of the Chek1 protein (UniProt.org). V439L has not been characterized in the scientific literature and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
V46A missense unknown CHEK1 V46A lies within the protein kinase domain of the Chek1 protein (UniProt.org). V46A has been identified in the scientific literature (PMID: 27452673), but has not been biochemically characterized and therefore, its effect on Chek1 protein function is unknown (PubMed, Oct 2023).
Y390* nonsense gain of function CHEK1 Y390* results in a premature truncation of the Chek1 protein at amino acid 390 of 476 (UniProt.org). Y390* confers a gain of function to the Chek1 protein as demonstrated by increased autophosphorylation and phosphorylation of Cdc25c in in vitro assays, and delayed cell cycle progression and impaired inactivating phosphorylation during mitosis in culture (PMID: 14681223).