CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Structural and functional versatility of the FHA domain in DNA-damage signaling by the tumor suppressor kinase Chk2. 12049740 2002
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain. 11901158 2002
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR The ATM-Chk2-Cdc25A checkpoint pathway guards against radioresistant DNA synthesis. 11298456 2001
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Characterization of tumor-associated Chk2 mutations. 11053450 2001
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428 2001
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR The hCds1 (Chk2)-FHA domain is essential for a chain of phosphorylation events on hCds1 that is induced by ionizing radiation. 11390408 2001
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Functional impact of concomitant versus alternative defects in the Chk2-p53 tumour suppressor pathway. 11571648 2001
dbSNP: rs17879961
rs17879961
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR