R49* (p.Arg49Ter) variant of XIAP (E3 ubiquitin-protein ligase XIAP)
R49* (p.Arg49Ter) in XIAP (E3 ubiquitin-protein ligase XIAP) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R49* (p.Arg49Ter) variant details
- p.Arg49Ter
- rs2522584464
- ClinGen CA414122804
- ClinVar RCV003066377
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)