Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.C319Y
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AVPR2

NM_000054.7:p.C319Y

Associated Papers

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

Mouillac B et al.

Handbook of Experimental Pharmacology, 2018

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

Mouillac B et al.

Pharmacological Research, 2014

Potential of nonpeptide (ant)agonists to rescue vasopressin V2 receptor mutants for the treatment of X-linked nephrogenic diabetes insipidus.

Los EL et al.

Journal of Neuroendocrinology, 2010

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

Robben JH et al.

Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2007

Pharmacochaperones post-translationally enhance cell surface expression by increasing conformational stability of wild-type and mutant vasopressin V2 receptors.

Wüller S et al.

The Journal of Biological Chemistry, 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."