Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.A260_H261insFs
Back to variants list

AVPR2

NM_000054.7:p.A260_H261insFs

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

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

Moeller HB et al.

Endocrine Reviews, 2013

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

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."