Y118D (p.Tyr118Asp) variant of KRT13 (Keratin, type I cytoskeletal 13)
Y118D (p.Tyr118Asp) in KRT13 (Keratin, type I cytoskeletal 13) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in WSN2. The record also includes published literature and structural context.
Y118D (p.Tyr118Asp) variant details
- p.Tyr118Asp
- UniProt VAR 086271
- Pathogenic
- in WSN2
- Missense
- EBI: Pathogenic (in WSN2)
- UniProt: Pathogenic (in WSN2)
- Structural context available
- Cited in: Clinical features and molecular genetic analysis in a Turkish family with oral white sponge nevus. (PMID 29476668)
- Cited in: Identification of two novel mutations in keratin 13 as the cause of white sponge naevus. (PMID 10561721)