Varaico: Literature-Extracted Genetic Variants

Gene:AQP2
Variant:p.A130V
Back to variants list

AQP2

NM_000486.6:p.A130V

Associated Papers

Case Report of Nephrogenic Diabetes Insipidus with a Novel Mutation in the AQP2 Gene.

Padilla-Guzmán A et al.

International Journal of Molecular Sciences, 2025

Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.

Bissonnette P et al.

Physiological Reports, 2021

Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.

Liao P et al.

Frontiers in Pediatrics, 2021

33996673 (PubMed )
Supplement: Data_Sheet_1.pdf

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

Clinical overview of nephrogenic diabetes insipidus based on a nationwide survey in Japan.

Fujimoto M et al.

Yonago Acta Medica, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."