Varaico: Literature-Extracted Genetic Variants

Gene:DKC1
Variant:p.D95A
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DKC1

NM_001363.5:p.D95A

Associated Papers

Unveil the Molecular Interplay between Aminoglycosides and Pseudouridine in IRES Translation.

Zhao Y et al.

Biorxiv : the Preprint Server for Biology, 2024

Loss of Conserved rRNA Modifications in the Peptidyl Transferase Center Leads to Diminished Protein Synthesis and Cell Growth in Budding Yeast.

Leppik M et al.

International Journal of Molecular Sciences, 2024

CryoEM structures of pseudouridine-free ribosome suggest impacts of chemical modifications on ribosome conformations.

Zhao Y et al.

Structure (london, England : 1993), 2022

How Ribosomes Translate Cancer.

Sulima SO et al.

Cancer Discovery, 2017

rRNA pseudouridylation defects affect ribosomal ligand binding and translational fidelity from yeast to human cells.

Jack K et al.

Molecular Cell, 2011

RNA-based 5-fluorouracil toxicity requires the pseudouridylation activity of Cbf5p.

Hoskins J et al.

Genetics, 2008

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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."