Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M272R
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AVPR2

NM_000054.7:p.M272R

Associated Papers

Functional characterization and cAMP-mediated rescue of a novel truncating AVPR2 mutation causing nephrogenic diabetes insipidus.

Manoel D et al.

American Journal of Physiology. Endocrinology and Metabolism, 2025

The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.

Capasso G et al.

Cen Case Reports, 2025

Cryo-electron microscopy structure of the antidiuretic hormone arginine-vasopressin V2 receptor signaling complex.

Bous J et al.

Science Advances, 2021

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

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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."