Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R64W
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AVPR2

NM_000054.7:p.R64W

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_MOESM10_ESM.xlsx › ED_Fig._3c

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

Spanakis E et al.

Journal of Cellular Physiology, 2008

Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.

Rocha JL et al.

Human Mutation, 1999

AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.

Wildin RS et al.

Kidney International, 1998

Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.

Wildin RS et al.

American Journal of Human Genetics, 1994

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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."