Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A114A
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AVPR2

NM_000054.7:p.A114A

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_MOESM8_ESM.xlsx › ED_Fig._1e

Disease-causing V(2) vasopressin receptors are retained in different compartments of the early secretory pathway.

Hermosilla R et al.

Traffic (copenhagen, Denmark), 2004

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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."