R422E (p.Arg422Glu) variant of KRT10 (Keratin, type I cytoskeletal 10)
R422E (p.Arg422Glu) in KRT10 (Keratin, type I cytoskeletal 10) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Annular epidermolytic ichthyosis. The record also includes published literature.
R422E (p.Arg422Glu) variant details
- p.Arg422Glu
- rs59075499
- ClinGen CA124146
- ClinVar RCV000015681
- ClinVar RCV000056474
- Pathogenic
- Annular epidermolytic ichthyosis
- Missense
- ClinVar: Pathogenic (Annular epidermolytic ichthyosis)
- EBI: Pathogenic (in AEI1)
- UniProt: Pathogenic (in AEI1)
- Cited in: A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital… (PMID 9036939)
- Cited in: A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital… (PMID 9856845)