E24* (p.Glu24Ter) variant of CDC73 (Parafibromin)
E24* (p.Glu24Ter) in CDC73 (Parafibromin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E24* (p.Glu24Ter) variant details
- p.Glu24Ter
- rs2527281261
- ClinGen CA2697554802
- ClinVar RCV003501976
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: CDC73-Related Disorders. (PMID 20301744)