W43* (p.Trp43Ter) variant of CDC73 (Parafibromin)
W43* (p.Trp43Ter) 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.
W43* (p.Trp43Ter) variant details
- p.Trp43Ter
- rs121434263
- ClinGen CA252648
- cosmic curated COSV66465
- ClinVar RCV000003430
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. (PMID 12434154)
- Cited in: CDC73-Related Disorders. (PMID 20301744)