Varaico: Literature-Extracted Genetic Variants

Gene:UMOD
Variant:p.H177_R185del0
Back to variants list

UMOD

NM_003361.4:p.H177_R185del0

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

Molecular and cellular effects of Tamm-Horsfall protein mutations and their rescue by chemical chaperones.

Ma L et al.

The Journal of Biological Chemistry, 2012

Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate.

Choi SW et al.

Journal of the American Society of Nephrology : Jasn, 2005

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy.

Calado J et al.

Bmc Medical Genetics, 2005

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."