K34R (p.Lys34Arg) variant of CDC73 (Parafibromin)
K34R (p.Lys34Arg) in CDC73 (Parafibromin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- rs2527281416
- ClinGen CA2580061757
- ClinVar RCV002833154
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)