Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.R387H
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VRK1

NM_003384.3:p.R387H

Associated Papers

CMT2 and distal hereditary motor neuropathy associated with VRK1 variants: Case series.

Živković SA et al.

Neuromuscular Disorders : Nmd, 2025

Pathogenic effects of Leu200Pro and Arg387His VRK1 protein variants on phosphorylation targets and H4K16 acetylation in distal hereditary motor neuropathy.

Campos-Díaz A et al.

Journal of Molecular Medicine (berlin, Germany), 2024

Multivalent DNA and nucleosome acidic patch interactions specify VRK1 mitotic localization and activity.

Budziszewski GR et al.

Nucleic Acids Research, 2022

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

Frasquet M et al.

European Journal of Neurology, 2021

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathy.

Greenbaum L et al.

Muscle & Nerve, 2020

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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."