Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Q96H
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AVPR2

NM_000054.7:p.Q96H

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

A novel disease-causing mutation in AVPR2: Q96H.

Lemaire M et al.

Ndt Plus, 2009

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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."