Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.R178P
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UMOD

NM_003361.4:p.R178P

Associated Papers

Autosomal Dominant Tubulointerstitial Kidney Disease: A Review.

Bleyer AJ et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2025

Quantifying clinical and genetic factors influencing rate and severity of autosomal dominant tubulointerstitial kidney disease progression.

Ramesh SS et al.

Journal of Pharmacokinetics and Pharmacodynamics, 2025

Autosomal dominant tubulointerstitial kidney disease: A review.

Živná M et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022

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

Ultrabright plasmonic fluor nanolabel-enabled detection of a urinary ER stress biomarker in autosomal dominant tubulointerstitial kidney disease.

Kim Y et al.

American Journal of Physiology. Renal Physiology, 2021

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

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology.

Park SJ et al.

Pediatric Nephrology (berlin, Germany), 2019

Uromodulin: from physiology to rare and complex kidney disorders.

Devuyst O et al.

Nature Reviews. Nephrology, 2017

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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."