E72K (p.Glu72Lys) variant of F8 (Coagulation factor VIII)
E72K (p.Glu72Lys) in F8 (Coagulation factor VIII) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HEMA. The record also includes published literature and structural context.
E72K (p.Glu72Lys) variant details
- p.Glu72Lys
- UniProt VAR 017330
- Pathogenic
- in HEMA
- Missense
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Analysis of 18 novel mutations in the factor VIII gene. (PMID 12930394)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)