C32R (p.Cys32Arg) variant of SERPINC1 (Antithrombin-III)
C32R (p.Cys32Arg) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in AT3D. The record also includes published literature and structural context.
C32R (p.Cys32Arg) variant details
- p.Cys32Arg
- UniProt VAR 027451
- Pathogenic
- in AT3D
- Missense
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: The molecular basis of antithrombin deficiency in Belgian and Dutch families. (PMID 9759613)
- Cited in: Molecular bases of antithrombin deficiency in French families: identification of seven novel mutations in the… (PMID 10997988)