ATP7B, ATPase copper transporting beta, 540

N. diseases: 182; N. variants: 333
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE In conclusion, WD patients with a single R778L heterozygote mutation can present with ALF as the initial clinical manifestation, and intermittent plasma transfusion combined with chelating therapy may alleviate fulminant WD without LT or ALS. 31010795 2020
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Generation of an integration-free induced pluripotent stem cell (iPSC) line (ZZUNEUi003-A) from a Wilson's disease patient harboring a homozygous R778L mutation in ATP7B gene. 31783295 2019
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE In a Polish population, genetic screening for WD may help genotype for four variants (p.His1069Gln, p.Gln1351Ter, p.Trp779Ter and c.3402delC), with direct sequencing of all ATP7B amplicons as a second diagnostic step. 30230192 2019
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE We demonstrated that, in contrast to the current dogma, the most frequent yet enigmatic Wilson disease-causing ATP7B-H1069Q mutation per se did not preclude trafficking of ATP7B to the trans-Golgi Network. 30965071 2019
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Genetic analysis was subsequently conducted, and the results revealed the p. (Arg778Leu) mutation in 1 allele and the p. (Asn1270Ser) mutation in the other allele of the ATP7B gene, confirming the diagnosis of WD; the p. (D456fs) mutation in 1 allele and the p. (R299H) mutation in the other allele of the TYR gene, confirming the diagnosis of OCA. 30558096 2018
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE In this study, we generated ATP7B site-directed point mutation rabbits to simulate a major mutation type in Asians (p. Arg778Leu) with Wilson disease (WD) by using the CRISPR/Cas9 system combined with single-strand DNA oligonucleotides (ssODNs). 29358698 2018
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE These results open the way to attempt developing a pharmacologically active peptide to specifically contrast the Wilson disease form caused by the ATP7B-H1069Q mutant. 29954118 2018
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE H1069Q substitution represents the most frequent mutation of the copper transporter ATP7B causing Wilson disease in Caucasian population. 29674751 2018
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Spectrum of ATP7B mutations and genotype-phenotype correlation in large-scale Chinese patients with Wilson Disease. 27982432 2017
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 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: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 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: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR [Mutation analysis of 35 Wilson's disease pedigrees]. 26829729 2016
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR She was diagnosed with WD based on the presence of Kayser-Fleischer rings around the irises of her eyes and two ATP7B gene mutations, R778L at exon 8 and A874V at exdyon 11. 25988284 2016
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations. 27706781 2016
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Spectrum and Classification of ATP7B Variants in a Large Cohort of Chinese Patients with Wilson's Disease Guides Genetic Diagnosis. 27022412 2016
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Mutational analysis of ATP7B in Chinese Wilson disease patients. 27398169 2016
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Suppression of these pathways with RNA interference or specific chemical inhibitors results in the substantial rescue of ATP7B(H1069Q) (as well as that of several other WD-causing mutants) from the endoplasmic reticulum to the trans-Golgi network compartment, in recovery of its Cu-dependent trafficking, and in reduction of intracellular Cu levels. 26660341 2016
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE The most common Wilson disease (WD) mutations p.H1069Q, p.R778L and p.C271*, found in the ATP7B gene encoding a liver copper transporter, were studied. 27122662 2016
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion. 26032686 2015
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861 2015
dbSNP: rs76151636
rs76151636
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Spectrum of mutations in the ATP binding domain of ATP7B gene of Wilson Disease in a regional Indian cohort. 25982861 2015
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation UNIPROT Evidence for synergistic effects of PRNP and ATP7B mutations in severe neuropsychiatric deterioration. 24555712 2014
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
T 0.900 CausalMutation CLINVAR Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation. 24094725 2014
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
0.900 GeneticVariation BEFREE Arg778Leu/Gln) coexisted in all patients and they were heterozygous and homozygous in the youngest case, respectively, indicating that they may be correlated to the pathogenesis and potentially used as a genetic biomarker for early WD diagnosis. 24878384 2014
dbSNP: rs28942074
rs28942074
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
CUI: C0019202
Disease:
Hepatolenticular Degeneration
A 0.900 CausalMutation CLINVAR Identification and characterization of a novel splice-site mutation in the Wilson disease gene. 25086856 2014