G43D (p.Gly43Asp) variant of HFE (Q30201)
G43D (p.Gly43Asp) in HFE (Q30201) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in HFE1. The record also includes published literature and structural context.
G43D (p.Gly43Asp) variant details
- p.Gly43Asp
- UniProt VAR 042507
- Pathogenic
- in HFE1
- Missense
- EBI: Pathogenic (in HFE1)
- UniProt: Pathogenic (in HFE1)
- Structural context available
- Cited in: An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr])… (PMID 18157833)
- Cited in: A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. (PMID 10094552)