Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.Y128D
Back to variants list

AVPR2

NM_000054.7:p.Y128D

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

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Liao P et al.

Frontiers in Pediatrics, 2021

33996673 (PubMed )
Supplement: Data_Sheet_1.pdf

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

Schlebach JP et al.

The Journal of Membrane Biology, 2015

Congenital nephrogenic diabetes insipidus: the current state of affairs.

Wesche D et al.

Pediatric Nephrology (berlin, Germany), 2012

Nephrogenic diabetes insipidus (NDI): clinical, laboratory and genetic characterization of five Brazilian patients.

Vaisbich MH et al.

Clinics (sao Paulo, Brazil), 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."