Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.W461R
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UGT1A1

NM_000463.3:p.W461R

Associated Papers

Establishment of the experimental procedure for prediction of conjugation capacity in mutant UGT1A1.

Takaoka Y et al.

Plos One, 2019

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

A molecular model of the human UDP-glucuronosyltransferase 1A1, its membrane orientation, and the interactions between different parts of the enzyme.

Laakkonen L et al.

Molecular Pharmacology, 2010

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

Di YM et al.

The Aaps Journal, 2009

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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