L53R (p.Leu53Arg) variant of AVPR2 (Vasopressin V2 receptor)
L53R (p.Leu53Arg) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in NDI1. The record also includes published literature and structural context.
L53R (p.Leu53Arg) variant details
- p.Leu53Arg
- UniProt VAR 015299
- Pathogenic
- in NDI1
- Missense
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus. (PMID 7913579)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)