Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R106H
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AVPR2

NM_000054.7:p.R106H

Associated Papers

A small molecule stabilizer rescues the surface expression of nearly all missense variants in a GPCR.

Mighell TL et al.

Nature Structural & Molecular Biology, 2025

40983772 (PubMed )
Supplement: 41594_2025_1659_MOESM5_ESM.xlsx › Fig._2a

X-Linked Recessive form of Nephrogenic Diabetes Insipidus in a 7-Year-Old Boy.

Janchevska A et al.

Balkan Journal of Medical Genetics : Bjmg, 2014

Variant amino acids in the extracellular loops of murine and human vasopressin V2 receptors account for differences in cell surface expression and ligand affinity.

Oksche A et al.

Molecular Endocrinology (baltimore, Md.), 2002

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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."