Varaico: Literature-Extracted Genetic Variants

Gene:AVPR2
Variant:p.L161P
Back to variants list

AVPR2

NM_000054.7:p.L161P

Associated Papers

Therapeutic potentials of nonpeptidic V2R agonists for partial cNDI-causing V2R mutants.

Kuramoto R et al.

Plos One, 2024

38748623 (PubMed )
Supplement: pone.0303507.s007.pdf

Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant.

Ishida A et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022

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

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.

Bichet DG

European Journal of Endocrinology, 2020

Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.

Yamashita S et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016

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."