Varaico: Literature-Extracted Genetic Variants

Gene:MOCOS
Variant:p.R419*
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MOCOS

NM_017947.4:p.R419*

Associated Papers

A nonsense mutation in the Mocos gene induces xanthinuria, obstructive nephropathy, and anemia in rats.

Urasaki M et al.

Experimental Animals, 2025

Genetic landscape of a cohort of children with varicella-zoster virus encephalitis, cerebellitis and stroke.

Winzig F et al.

The Journal of Infectious Diseases, 2025

40848267 (PubMed )
Supplement: jiaf448_supplementary_data.zip › Supplementary_table_5_gene_hits_in_WES_analysis.xlsx › Sheet2

Clinical and genetic analysis of MOCOS gene-related hypouricemia.

Peng H et al.

Frontiers in Genetics, 2025

Somatic and Germline Genomic Alterations in Very Young Women with Breast Cancer.

Waks AG et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022

35101884 (PubMed )
Supplement: ccr-21-2572_supplementary_table_s6_supps6.xls › Sheet1

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.

Peretz H et al.

Jimd Reports, 2020

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B et al.

Toxicology and Applied Pharmacology, 2018

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L et al.

Bmc Veterinary Research, 2016

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

Peretz H et al.

Molecular Genetics and Metabolism, 2007

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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."