Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L336P
Back to variants list

AVPR2

NM_000054.7:p.L336P

Associated Papers

A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation.

Li L et al.

International Medical Case Reports Journal, 2025

Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.

Li Q et al.

Journal of Endocrinological Investigation, 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

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."