Varaico: Literature-Extracted Genetic Variants

Gene:UBR4
Variant:p.R5091H
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UBR4

NM_020765.3:p.R5091H

Associated Papers

UBE2A and UBE2B are recruited by an atypical E3 ligase module in UBR4.

Barnsby-Greer L et al.

Nature Structural & Molecular Biology, 2024

It's not just a phase; ubiquitination in cytosolic protein quality control.

Baker HA et al.

Biochemical Society Transactions, 2021

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.

Lauxmann S et al.

Frontiers in Neurology, 2021

Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.

Garone G et al.

International Journal of Molecular Sciences, 2020

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Episodic Ataxias: Clinical and Genetic Features.

Choi KD et al.

Journal of Movement Disorders, 2016

A novel locus for episodic ataxia:UBR4 the likely candidate.

Conroy J et al.

European Journal of Human Genetics : Ejhg, 2014

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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."