Varaico: Literature-Extracted Genetic Variants

Gene:GALK1
Variant:p.Y379C
Back to variants list

GALK1

NM_000154.2:p.Y379C

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."