Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.G349S
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GALK1

NM_000154.2:p.G349S

Associated Papers

Structural analysis of missense mutations in galactokinase 1 (GALK1) leading to galactosemia type-2.

P S et al.

Journal of Cellular Biochemistry, 2018

Increased promiscuity of human galactokinase following alteration of a single amino acid residue distant from the active site.

Kristiansson H et al.

Chembiochem : a European Journal of Chemical Biology, 2011

Molecular structure of human galactokinase: implications for type II galactosemia.

Thoden JB et al.

The Journal of Biological Chemistry, 2005

Galactokinase: structure, function and role in type II galactosemia.

Holden HM et al.

Cellular and Molecular Life Sciences : Cmls, 2004

Substrate specificity and mechanism from the structure of Pyrococcus furiosus galactokinase.

Hartley A et al.

Journal of Molecular Biology, 2004

Sugar recognition by human galactokinase.

Timson DJ et al.

Bmc Biochemistry, 2003

Molecular structure of galactokinase.

Thoden JB et al.

The Journal of Biological Chemistry, 2003

Functional analysis of disease-causing mutations in human galactokinase.

Timson DJ et al.

European Journal of Biochemistry, 2003

Novel mutations in 13 probands with galactokinase deficiency.

Kolosha V et al.

Human Mutation, 2000

Molecular characterization of galactokinase deficiency in Japanese patients.

Asada M et al.

Journal of Human Genetics, 1999

[Galactokinase deficiency].

Okano Y et al.

Ryoikibetsu Shokogun Shirizu, 1998

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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."