F287L (p.Phe287Leu) variant of AVPR2 (Vasopressin V2 receptor)
F287L (p.Phe287Leu) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes insipidus, nephrogenic, X-linked. The record also includes published literature.
F287L (p.Phe287Leu) variant details
- p.Phe287Leu
- UniProt VAR 015343
- Likely pathogenic
- Diabetes insipidus, nephrogenic, X-linked
- Missense
- ClinVar: Likely pathogenic (Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Cited in: Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in… (PMID 11916004)
- Cited in: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic… (PMID 10477431)