ATP7B Chromosome 13

ATPase copper transporting beta
892 variants 892 Health Risk

Upload your DNA to see your personal genotypes for variants in ATP7B.

What This Gene Does
This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein is a monomer, and functions as a copper-transporting ATPase which exports copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease which is characterized by copper accumulation. [provided by RefSeq, Dec 2019]
Gene Info
Gene Group
ATPase copper transporting
Locus Type
gene with protein product
Location
13q14.3
Ensembl
ENSG00000123191
Associated Conditions (29)
Wilson disease
Inborn genetic diseases
ATP7B-related disorder
See cases
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Hepatocellular carcinoma
Familial cancer of breast
Intellectual disability
Wolff type
Epileptic encephalopathy
Malignant tumor of urinary bladder
Neoplasm
Kayser-Fleischer ring
Hand tremor
Developmental and epileptic encephalopathy 93
+9 more conditions
Key Variants
RS1014184765
Conflicting classifications of pathogenicity
Wilson disease, Inborn genetic diseases, Wilson disease
Health Risk
RS1017756733
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS111901413
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1131691741
Conflicting classifications of pathogenicity
Wilson disease, Inborn genetic diseases, Wilson disease
Health Risk
RS115227204
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS116587608
Conflicting classifications of pathogenicity
Wilson disease, Inborn genetic diseases, ATP7B-related disorder
Health Risk
RS1169959260
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1173623580
Conflicting classifications of pathogenicity
Health Risk
RS11840224
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1192728612
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
RS1202766392
Conflicting classifications of pathogenicity
Health Risk
RS1206016866
Conflicting classifications of pathogenicity
Wilson disease, Wilson disease
Health Risk
All Variants (892)
RSID Category Clinical Significance Conditions
RS529307157 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS531487054 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS533967323 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS534622837 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS534960245 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS537498754 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS539585071 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS540935874 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS546721020 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS548512104 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS550565277 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS551030054 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS551051945 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS553861183 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS557577836 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS565970531 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS570594838 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS572110753 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS572122562 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS572147914 Health Risk Conflicting classifications of pathogenicity Wilson disease, Intellectual disability, Wolff type
RS574041847 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783301 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783307 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783309 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783314 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, ATP7B-related disorder
RS587783315 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS587783318 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS60986317 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS61733679 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS61733680 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS61733683 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS61957448 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS72552259 Health Risk Conflicting classifications of pathogenicity Wilson disease, Epileptic encephalopathy, Inborn genetic diseases
RS745866259 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS746358240 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS748113748 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS748788136 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS74904335 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS749085322 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS749363958 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS749626601 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750477816 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS750530407 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750693417 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750724856 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS750891085 Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder, Wilson disease
RS751202110 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease, Wilson disease
RS751819044 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS751920801 Health Risk Conflicting classifications of pathogenicity Wilson disease, Inborn genetic diseases, Wilson disease
RS752634617 Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
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