K1981R (p.Lys1981Arg) variant of COL7A1 (Collagen alpha-1(VII) chain)
K1981R (p.Lys1981Arg) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epidermolysis bullosa dystrophica. The record also includes published literature.
K1981R (p.Lys1981Arg) variant details
- p.Lys1981Arg
- UniProt VAR 064995
- Likely pathogenic
- Epidermolysis bullosa dystrophica
- Missense
- ClinVar: Likely pathogenic (Epidermolysis bullosa dystrophica)
- EBI: Pathogenic (in RDEB)
- UniProt: Pathogenic (in RDEB)
- Cited in: Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent… (PMID 20598510)
- Cited in: Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa. (PMID 10084325)