Varaico: Literature-Extracted Genetic Variants

Gene:UGT1A1
Variant:p.K428E
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UGT1A1

NM_000463.3:p.K428E

Associated Papers

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

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

Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

Galehdari H et al.

International Journal of Molecular Epidemiology and Genetics, 2013

Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Rahim F et al.

Genetics Research International, 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

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

Molecular pathology of Crigler-Najjar type I and II and Gilbert's syndromes.

Sampietro M et al.

Haematologica, 1999

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

Mackenzie PI et al.

Pharmacogenetics, 1997

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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."