Varaico: Literature-Extracted Genetic Variants

Gene:OXER1
Variant:p.R137H
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OXER1

NM_148962.5:p.R137H

Associated Papers

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

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

Mouillac B et al.

Pharmacological Research, 2014

Congenital nephrogenic diabetes insipidus: the current state of affairs.

Wesche D et al.

Pediatric Nephrology (berlin, Germany), 2012

Agonist-independent interactions between beta-arrestins and mutant vasopressin type II receptors associated with nephrogenic syndrome of inappropriate antidiuresis.

Kocan M et al.

Molecular Endocrinology (baltimore, Md.), 2009

Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus.

Robben JH et al.

American Journal of Physiology. Renal Physiology, 2006

Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.

Tang CM et al.

Expert Opinion on Therapeutic Targets, 2005

Structural implication for receptor oligomerization from functional reconstitution studies of mutant V2 vasopressin receptors.

Schulz A et al.

The Journal of Biological Chemistry, 2000

The molecular basis of nephrogenic diabetes insipidus.

Oksche A et al.

Journal of Molecular Medicine (berlin, Germany), 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."