V88M (p.Val88Met) variant of AVPR2 (Vasopressin V2 receptor)
V88M (p.Val88Met) in AVPR2 (Vasopressin V2 receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of. The record also includes published literature and structural context.
V88M (p.Val88Met) variant details
- p.Val88Met
- rs2521152920
- NCI-TCGA Cosmic COSV6168
- cosmic curated COSV61686
- ClinGen CA415104667
- Pathogenic
- not provided; Diabetes insipidus, nephrogenic, X-linked; Nephrogenic syndrome of
- Missense
- ClinVar: Pathogenic (not provided; Diabetes insipidus, nephrogenic, X-linked; Nephrog)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. (PMID 8037205)
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)