W71* (p.Trp71Ter) variant of AVPR2 (Vasopressin V2 receptor)
W71* (p.Trp71Ter) in AVPR2 (Vasopressin V2 receptor) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W71* (p.Trp71Ter) variant details
- p.Trp71Ter
- rs2521152444
- ClinGen CA415104260
- ClinVar RCV003559467
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Nephrogenic diabetes insipidus in North America. The Hopewell hypothesis. (PMID 4886456)
- Cited in: X-linked nephrogenic diabetes insipidus mutations in North America and the Hopewell hypothesis. (PMID 8104196)