Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.L218delFs
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AQP2

NM_000486.6:p.L218delFs

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

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

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

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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."