Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF5
Variant:p.Y48S
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ARHGEF5

NM_005435.4:p.Y48S

Associated Papers

Tyrosine-48 is the proton donor and histidine-110 directs substrate stereochemical selectivity in the reduction reaction of human aldose reductase: enzyme kinetics and crystal structure of the Y48H mutant enzyme.

Bohren KM et al.

Biochemistry, 1994

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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."