Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.G250E
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AVPR2

NM_000054.7:p.G250E

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

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

Spanakis E et al.

Journal of Cellular Physiology, 2008

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

Catalog of 178 variations in the Japanese population among eight human genes encoding G protein-coupled receptors (GPCRs).

Saito S et al.

Journal of Human Genetics, 2003

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 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."