E77* (p.Glu77Ter) variant of ATP7B (Copper-transporting ATPase 2)
E77* (p.Glu77Ter) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E77* (p.Glu77Ter) variant details
- p.Glu77Ter
- rs1952034577
- ClinGen CA388044858
- ClinVar RCV001263830
- Ensembl rs1952034577
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)