Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C77G
Back to variants list

UMOD

NM_003361.4:p.C77G

Associated Papers

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

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

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

Moskowitz JL et al.

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

The Uromodulin C744G mutation causes MCKD2 and FJHN in children and adults and may be due to a possible founder effect.

Wolf MT et al.

Kidney International, 2007

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."