G107E (p.Gly107Glu) variant of AVPR2 (Vasopressin V2 receptor)
G107E (p.Gly107Glu) 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 not provided; Diabetes insipidus, nephrogenic, X-linked. The record also includes published literature and structural context.
G107E (p.Gly107Glu) variant details
- p.Gly107Glu
- rs2521153564
- ClinGen CA415105085
- ClinVar RCV003050676
- ClinVar RCV005629684
- Likely pathogenic
- not provided; Diabetes insipidus, nephrogenic, X-linked
- Missense
- ClinVar: Likely pathogenic (not provided; Diabetes insipidus, nephrogenic, X-linked)
- EBI: Pathogenic (in NDI1)
- UniProt: Pathogenic (in NDI1)
- Structural context available
- Cited in: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes… (PMID 9402087)
- Cited in: Hereditary Nephrogenic Diabetes Insipidus. (PMID 20301356)