Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.R85*
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AQP2

NM_000486.6:p.R85*

Associated Papers

AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.

Gao C et al.

Cells, 2020

Long-term outcome in inherited nephrogenic diabetes insipidus.

Sharma S et al.

Clinical Kidney Journal, 2019

Genetics of Diabetes Insipidus.

Schernthaner-Reiter MH et al.

Endocrinology and Metabolism Clinics of North America, 2017

Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus.

Duzenli D et al.

Endocrine, 2012

Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus-update and epidemiology.

Bichet DG et al.

Clinical Kidney Journal, 2012

Differential diagnosis of hereditary nephrogenic diabetes insipidus with desmopressin infusion test.

Bircan Z et al.

Indian Journal of Pediatrics, 2010

Regulation of aquaporin-2 trafficking.

Nedvetsky PI et al.

Handbook of Experimental Pharmacology, 2009

Genetic variation in human aquaporins and effects on phenotypes of water homeostasis.

Sorani MD et al.

Human Mutation, 2008

A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus.

Bircan Z et al.

Pediatric Nephrology (berlin, Germany), 2008

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

Two novel aquaporin-2 mutations responsible for congenital nephrogenic diabetes insipidus in Chinese families.

Lin SH et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

[Nephrogenic diabetes insipidus associated with mutations of vasopressin V2 receptors and aquaporin-2].

Ishikawa SE

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002

Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.

Vargas-Poussou R et al.

Journal of the American Society of Nephrology : Jasn, 1997

Defective processing and trafficking of water channels in nephrogenic diabetes insipidus.

Kamsteeg EJ et al.

Experimental Nephrology, 0

[Nephrogenic diabetes insipidus].

Velásquez-Jones L et al.

Boletin Medico Del Hospital Infantil De Mexico, 0

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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."