K74* (p.Lys74Ter) variant of ATP7B (Copper-transporting ATPase 2)
K74* (p.Lys74Ter) 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.
K74* (p.Lys74Ter) variant details
- p.Lys74Ter
- rs1952035259
- ClinGen CA388044911
- ClinVar RCV001263831
- Ensembl rs1952035259
- 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)