Varaico: Literature-Extracted Genetic Variants

Gene:TPI1
Variant:p.R5R
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TPI1

NM_000365.6:p.R5R

Associated Papers

The Role of Protein Side Chains in Enzyme-Activating Conformational Changes: Lessons from Studies on Variant Enzymes.

Hegazy R et al.

Chemical Reviews, 2025

Structural and Genetic Studies Demonstrate Neurologic Dysfunction in Triosephosphate Isomerase Deficiency Is Associated with Impaired Synaptic Vesicle Dynamics.

Roland BP et al.

Plos Genetics, 2016

Functional role of a conserved arginine residue located on a mobile loop of alkanesulfonate monooxygenase.

Carpenter RA et al.

Biochemistry, 2011

Role of Lys-12 in catalysis by triosephosphate isomerase: a two-part substrate approach.

Go MK et al.

Biochemistry, 2010

Crystal structure of the K12M/G15A triosephosphate isomerase double mutant and electrostatic analysis of the active site.

Joseph-McCarthy D 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."