Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B6
Variant:p.R47K
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HSD17B6

NM_003725.4:p.R47K

Associated Papers

Structural evidence: a single charged residue affects substrate binding in cytochrome P450 BM-3.

Catalano J et al.

Biochemistry, 2013

Mutations in the Saccharomyces cerevisiae succinate dehydrogenase result in distinct metabolic phenotypes revealed through (1)H NMR-based metabolic footprinting.

Szeto SS et al.

Journal of Proteome Research, 2010

Ubiquinone-binding site mutations in the Saccharomyces cerevisiae succinate dehydrogenase generate superoxide and lead to the accumulation of succinate.

Szeto SSW et al.

The Journal of Biological Chemistry, 2007

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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."