Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P387S
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UGT1A1

NM_000463.3:p.P387S

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

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

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

Di YM et al.

The Aaps Journal, 2009

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

Li C et al.

Bmc Evolutionary Biology, 2007

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

Chronic hemolytic anemia associated with glucose 6-phosphate dehydrogenase (Guadalajara)1 159 C --> T (387 Arg --> Cys) deficiency associated with Gilbert syndrome in a Turkish patient.

Oner R et al.

Pediatric Hematology and Oncology, 0

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