Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.R403C
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UGT1A1

NM_000463.3:p.R403C

Associated Papers

Genetic testing of UGT1A1 in the diagnosis of Gilbert syndrome: The discovery of seven novel variants in the Chinese population.

Gu L et al.

Molecular Genetics & Genomic Medicine, 2022

Performance of In Silico Tools for the Evaluation of UGT1A1 Missense Variants.

Rodrigues C et al.

Human Mutation, 2015

26377032 (PubMed )
Supplement: supplement_1.pdf

Spectrum of UGT1A1 Variations in Chinese Patients with Crigler-Najjar Syndrome Type II.

Li L et al.

Plos One, 2015

25993113 (PubMed )
Supplement: pone.0126263.s002.docx

Gilbert and Crigler Najjar syndromes: an update of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene mutation database.

Canu G et al.

Blood Cells, Molecules & Diseases, 2013

Impact of UGT1A1 gene variants on total bilirubin levels in Gilbert syndrome patients and in healthy subjects.

Rodrigues C et al.

Blood Cells, Molecules & Diseases, 2012

Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

Di YM et al.

The Aaps Journal, 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-

Adaptive evolution of multiple-variable exons and structural diversity of drug-metabolizing enzymes.

Li C et al.

Bmc Evolutionary Biology, 2007

Crigler-Najjar syndrome type 2.

Huang CS et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2006

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

Servedio V et al.

Human Mutation, 2005

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