Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.M272V
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AVPR2

NM_000054.7:p.M272V

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

A novel AVPR2 gene mutation in a Chinese pedigree with nephrogenic diabetes insipidus.

Zhao Y et al.

Postgraduate Medicine, 2024

First report on female monozygotic twins discordant for congenital nephrogenic diabetes insipidus.

Chen X et al.

American Journal of Medical Genetics. Part A, 2024

Retracted: A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.

International BR

Biomed Research International, 2024

A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.

Zang L et al.

Biomed Research International, 2022

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