Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.W375*
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VRK1

NM_003384.3:p.W375*

Associated Papers

The phenotyping dilemma in VRK1-related motor neuron disease: a Turkish family with young-onset amyotrophic lateral sclerosis caused by a novel mutation.

Mercan M et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025

Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.

Wang H et al.

Scientific Reports, 2025

40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3

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

Adult-Onset Spinal Muscular Atrophy due to Mutations in the VRK1 Gene.

Sung A et al.

Neurology. Genetics, 2021

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

Phosphorylation of vaccinia-related kinase 1 at threonine 386 transduces glucose stress signal in human liver cells.

Yokobori K et al.

Bioscience Reports, 2020

Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

Sedghi M et al.

Annals of Clinical and Translational Neurology, 2019

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

El-Bazzal L et al.

Human Molecular Genetics, 2019

A novel mutation in VRK1 associated with distal spinal muscular atrophy.

Li N et al.

Journal of Human Genetics, 2019

A novel VRK1 mutation associated with recessive distal hereditary motor neuropathy.

Feng SY et al.

Annals of Clinical and Translational Neurology, 2019

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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."