Varaico: Literature-Extracted Genetic Variants

Gene:VRK1
Variant:p.T256I
Back to variants list

VRK1

NM_003384.3:p.T256I

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

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

Sung A et al.

Neurology. Genetics, 2021

Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease.

Yamaura G et al.

Internal Medicine (tokyo, Japan), 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."