Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.C83W
Back to variants list

UMOD

NM_003361.4:p.C83W

Associated Papers

Early-onset kidney failure in a girl with autosomal dominant tubulointerstitial kidney disease due to a de novo UMOD variant.

Tomori S et al.

Cen Case Reports, 2026

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

A novel UMOD gene mutation associated with chronic kidney failure at a young age.

Carucci NS et al.

Clinical Nephrology, 2019

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."