Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.P387R
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UGT1A1

NM_000463.3:p.P387R

Associated Papers

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

UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.

Skierka JM et al.

The Journal of Pediatrics, 2013

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

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

Li C et al.

Bmc Evolutionary Biology, 2007

Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) causing Crigler-Najjar and Gilbert syndromes: correlation of genotype to phenotype.

Kadakol A et al.

Human Mutation, 2000

The UDP glycosyltransferase gene superfamily: recommended nomenclature update based on evolutionary divergence.

Mackenzie PI et al.

Pharmacogenetics, 1997

Genetic defects at the UGT1 locus associated with Crigler-Najjar type I disease, including a prenatal diagnosis.

Ciotti M et al.

American Journal of Medical Genetics, 1997

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