Varaico: Literature-Extracted Genetic Variants

Gene:TYR
Variant:p.E250D
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TYR

NM_000372.5:p.E250D

Associated Papers

Human recombinant tyrosinase destabilization caused by the double mutation R217Q/R402Q.

Toay S et al.

Protein Science : a Publication of the Protein Society, 2025

Modification of a Putative Third Sodium Site in the Glycine Transporter GlyT2 Influences the Chloride Dependence of Substrate Transport.

Benito-Muñoz C et al.

Frontiers in Molecular Neuroscience, 2018

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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."