Varaico: Literature-Extracted Genetic Variants

Gene:MOCOS
Variant:p.H703N
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MOCOS

NM_017947.4:p.H703N

Associated Papers

Natural History of Germline BRCA1 Mutated and BRCA Wild-type Triple-negative Breast Cancer.

Gardi N et al.

Cancer Research Communications, 2024

38315150 (PubMed )
Supplement: crc-23-0277-s13.xlsx › Sheet1

Genetic variants of genes involved in thiopurine metabolism pathway are associated with 6-mercaptopurine toxicity in pediatric acute lymphoblastic leukemia patients from Ethiopia.

Ali AM et al.

Frontiers in Pharmacology, 2023

Individualized Proteogenomics Reveals the Mutational Landscape of Melanoma Patients in Response to Immunotherapy.

Schmitt M et al.

Cancers, 2021

34771574 (PubMed )
Supplement: cancers-13-05411-s001.zip › cancers-1421686_Table_S4.xlsx › Sheet_1

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

Treatment-associated TP53 DNA-binding domain missense mutations in the pathogenesis of secondary gliosarcoma.

Pain M et al.

Oncotarget, 2018

29416795 (PubMed )
Supplement: oncotarget-09-2603-s001.pdf

Genomic sequencing of uric acid metabolizing and clearing genes in relationship to xanthine oxidase inhibitor dose.

Carroll MB et al.

Rheumatology International, 2017

Genes implicated in thiopurine-induced toxicity: Comparing TPMT enzyme activity with clinical phenotype and exome data in a paediatric IBD cohort.

Coelho T et al.

Scientific Reports, 2016

Polymorphism of genes involved in purine metabolism (XDH, AOX1, MOCOS) in kidney transplant recipients receiving azathioprine.

Kurzawski M et al.

Therapeutic Drug Monitoring, 2012

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."