Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.E258K
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AVPR2

NM_000054.7:p.E258K

Associated Papers

AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Gao C et al.

Cells, 2020

[Vasopressin V2 receptor-related pathologies: congenital nephrogenic diabetes insipidus and nephrogenic syndrome of inappropiate antidiuresis].

Morin D

Nephrologie & Therapeutique, 2014

Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.

Moeller HB et al.

Endocrine Reviews, 2013

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Bichet DG et al.

Clinical Kidney Journal, 2012

Regulation of aquaporin-2 trafficking.

Nedvetsky PI et al.

Handbook of Experimental Pharmacology, 2009

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Robben JH et al.

American Journal of Physiology. Renal Physiology, 2006

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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."