Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.V266A
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AVPR2

NM_000054.7:p.V266A

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

Identification of an Unexplored Dynamic Allosteric Site on the Activation Pathway of the Vasopressin V2 Receptor.

Qiao X et al.

Journal of Medicinal Chemistry, 2025

Mutations of Vasopressin Receptor 2 Including Novel L312S Have Differential Effects on Trafficking.

Tiulpakov A et al.

Molecular Endocrinology (baltimore, Md.), 2016

Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis.

Erdélyi LS et al.

Kidney International, 2015

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Characterization of three vasopressin receptor 2 variants: an apparent polymorphism (V266A) and two loss-of-function mutations (R181C and M311V).

Armstrong SP et al.

Plos One, 2013

AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance.

Spanakis E et al.

Journal of Cellular Physiology, 2008

Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus.

Schulz A et al.

The Journal of Clinical Endocrinology and Metabolism, 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."