K67E (p.Lys67Glu) variant of F8 (Coagulation factor VIII)
K67E (p.Lys67Glu) 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.
K67E (p.Lys67Glu) variant details
- p.Lys67Glu
- UniProt VAR 028456
- Pathogenic
- in HEMA
- Missense
- EBI: Pathogenic (in HEMA)
- UniProt: Pathogenic (in HEMA)
- Structural context available
- Cited in: Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. (PMID 11858487)
- Cited in: Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with… (PMID 10215414)