Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.S333del1
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AVPR2

NM_000054.7:p.S333del1

Associated Papers

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.

Ishida A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation.

Prosperi F et al.

Scientific Reports, 2020

Analysis of the V2 Vasopressin Receptor (V2R) Mutations Causing Partial Nephrogenic Diabetes Insipidus Highlights a Sustainable Signaling by a Non-peptide V2R Agonist.

Makita N et al.

The Journal of Biological Chemistry, 2016

Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.

Fujimoto M et al.

Yonago Acta Medica, 2014

Identification and characterization of a novel X-linked AVPR2 mutation causing partial nephrogenic diabetes insipidus: a case report and review of the literature.

Neocleous V et al.

Metabolism: Clinical and Experimental, 2012

V2 vasopressin receptor (V2R) mutations in partial nephrogenic diabetes insipidus highlight protean agonism of V2R antagonists.

Takahashi K et al.

The Journal of Biological Chemistry, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."