Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Y124C
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AVPR2

NM_000054.7:p.Y124C

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_MOESM4_ESM.xlsx › Fig._1d

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.

Ishida A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

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