Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.Y274C
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UMOD

NM_003361.4:p.Y274C

Associated Papers

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Elhassan EAE et al.

Kidney International Reports, 2025

40677324 (PubMed )
Supplement: mmc1.pdf

An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.

Olinger E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Autosomal dominant tubulointerstitial kidney disease (ADTKD) in Ireland.

Cormican S et al.

Renal Failure, 2019

A novel UMOD gene mutation associated with uromodulin-associated kidney disease in a young woman with moderate kidney dysfunction.

Kuma A et al.

Internal Medicine (tokyo, Japan), 2015

Association between genotype and phenotype in uromodulin-associated kidney disease.

Moskowitz JL et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2013

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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."