Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.R252W
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AVPR2

NM_000054.7:p.R252W

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

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeIII

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

Spanakis E et al.

Journal of Cellular Physiology, 2008

Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.

Arthus MF et al.

Journal of the American Society of Nephrology : Jasn, 2000

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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."