K37* (p.Lys37Ter) variant of CDC73 (Parafibromin)
K37* (p.Lys37Ter) in CDC73 (Parafibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
K37* (p.Lys37Ter) variant details
- p.Lys37Ter
- rs886039716
- ClinGen CA10588273
- ClinVar RCV000255022
- Ensembl rs886039716
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available