Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C148R
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UMOD

NM_003361.4:p.C148R

Associated Papers

Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease.

Schiano G et al.

Embo Molecular Medicine, 2023

37885358 (PubMed )
Supplement: EMMM-15-e18242-s003.zip › Figure_1 › 1A › ADTKD-UMOD_age_at_kidney_failure.xlsx › Sheet1

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

35947615 (PubMed )
Supplement: pnas.2114734119.sapp.pdf

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.

Kidd K et al.

Kidney International Reports, 2020

32954071 (PubMed )
Supplement: mmc1.pdf

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

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

Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations.

Bollée G et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2011

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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."