Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.H260_S261insFs
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AQP2

NM_000486.6:p.H260_S261insFs

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

Genetics of Diabetes Insipidus.

Schernthaner-Reiter MH et al.

Endocrinology and Metabolism Clinics of North America, 2017

Nephrogenic diabetes insipidus: essential insights into the molecular background and potential therapies for treatment.

Moeller HB et al.

Endocrine Reviews, 2013

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

Bichet DG et al.

Clinical Kidney Journal, 2012

Regulation of aquaporin-2 trafficking.

Nedvetsky PI et al.

Handbook of Experimental Pharmacology, 2009

Two novel mutations in the aquaporin 2 gene in a girl with congenital nephrogenic diabetes insipidus.

Cheong HI et al.

Journal of Korean Medical Science, 2005

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.

Kamsteeg EJ et al.

The Journal of Cell Biology, 2003

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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."