Varaico: Literature-Extracted Genetic Variants

Gene:UBC
Variant:p.G76V
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UBC

NM_021009.7:p.G76V

Associated Papers

Convergence of orphan quality control pathways at a ubiquitin chain-elongating ligase.

Carrillo Roas S et al.

Molecular Cell, 2025

The proteasome regulator PI31 is required for protein homeostasis, synapse maintenance, and neuronal survival in mice.

Minis A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Ubiquilins Chaperone and Triage Mitochondrial Membrane Proteins for Degradation.

Itakura E et al.

Molecular Cell, 2016

27345149 (PubMed )
Supplement: mmc1.pdf

Intermediate filament aggregates cause mitochondrial dysmotility and increase energy demands in giant axonal neuropathy.

Israeli E et al.

Human Molecular Genetics, 2016

The ubiquitin-proteasome system regulates the stability and activity of the glucose sensor glucokinase in pancreatic β-cells.

Hofmeister-Brix A et al.

The Biochemical Journal, 2013

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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."