Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L83Q
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AVPR2

NM_000054.7:p.L83Q

Associated Papers

Gαs and Gαq/11 protein coupling bias of two AVPR2 mutants (R68W and V162A) that cause nephrogenic diabetes insipidus.

Erdem Tuncdemir B

Journal of Receptor and Signal Transduction Research, 2022

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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

Chemical validation and optimization of pharmacoperones targeting vasopressin type 2 receptor mutant.

Janovick JA et al.

The Biochemical Journal, 2018

Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors.

Mouillac B et al.

Handbook of Experimental Pharmacology, 2018

Pharmacoperone rescue of vasopressin 2 receptor mutants reveals unexpected constitutive activity and coupling bias.

Janovick JA et al.

Plos One, 2017

Identification of Potential Pharmacoperones Capable of Rescuing the Functionality of Misfolded Vasopressin 2 Receptor Involved in Nephrogenic Diabetes Insipidus.

Smith E et al.

Journal of Biomolecular Screening, 2016

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

Vasopressin receptors and pharmacological chaperones: from functional rescue to promising therapeutic strategies.

Mouillac B et al.

Pharmacological Research, 2014

Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application.

Robben JH et al.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007

Pharmacologic chaperones as a potential treatment for X-linked nephrogenic diabetes insipidus.

Bernier V et al.

Journal of the American Society of Nephrology : Jasn, 2006

Molecular and cellular defects in nephrogenic diabetes insipidus.

Knoers NV et al.

Pediatric Nephrology (berlin, Germany), 2001

Pharmacological chaperones: a new twist on receptor folding.

Morello JP et al.

Trends in Pharmacological Sciences, 2000

Pharmacological chaperones rescue cell-surface expression and function of misfolded V2 vasopressin receptor mutants.

Morello JP et al.

The Journal of Clinical Investigation, 2000

Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.

Ala Y et al.

Journal of the American Society of Nephrology : Jasn, 1998

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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."