CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		0.820 GeneticVariation BEFREE Oncogenic potential of N-terminal deletion and S45Y mutant β-catenin in promoting hepatocellular carcinoma development in mice. 30419856 2018
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		0.820 GeneticVariation BEFREE GC-1 exerts a notable antitumoral effect on hMet-S45Y-β-catenin HCC by inactivating Met signaling. 28807594 2017
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		G 0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		T 0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		A 0.820 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065 2009
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation BEFREE A novel mutation, D32N, was found in one case of pilomatricoma. 11472567 2001
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283 2001
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.820 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393 1999
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		0.820 GeneticVariation UNIPROT
dbSNP: rs121913409
rs121913409
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		T 0.820 CausalMutation CLINVAR
dbSNP: rs28931588
rs28931588
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		T 0.820 CausalMutation CLINVAR
dbSNP: rs121913403
rs121913403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.810 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma 		G 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma 		T 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma 		A 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913407
rs121913407
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		C 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913413
rs121913413
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		A 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913413
rs121913413
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		T 0.810 GeneticVariation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
dbSNP: rs121913403
rs121913403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.810 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121913407
rs121913407
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		0.810 GeneticVariation BEFREE Only three HCC cases (5.6%) were found mutated at residues (G34E, S45P, P44S, T41I) important for phosphorylation and ubiquitination of beta-catenin protein. 25536643 2015
dbSNP: rs121913413
rs121913413
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma 		0.810 GeneticVariation BEFREE Only three HCC cases (5.6%) were found mutated at residues (G34E, S45P, P44S, T41I) important for phosphorylation and ubiquitination of beta-catenin protein. 25536643 2015
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0025149
Disease:
Medulloblastoma 		A 0.810 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs121913403
rs121913403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma 		0.810 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013