Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.R301G
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KIF1C

NM_006612.6:p.R301G

Associated Papers

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C-Related Disease (Spastic Paraplegia 58): Two Long-Duration Cases.

Mitsutake A et al.

Annals of Clinical and Translational Neurology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG58

Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype.

Mahale R et al.

Acta Neurologica Belgica, 2024

A highly conserved 310 helix within the kinesin motor domain is critical for kinesin function and human health.

Lam AJ et al.

Science Advances, 2021

Going Too Far Is the Same as Falling Short†: Kinesin-3 Family Members in Hereditary Spastic Paraplegia.

Gabrych DR et al.

Frontiers in Cellular Neuroscience, 2019

Progressive ataxia of Charolais cattle highlights a role of KIF1C in sustainable myelination.

Duchesne A et al.

Plos Genetics, 2018

Motor protein mutations cause a new form of hereditary spastic paraplegia.

Caballero Oteyza A et al.

Neurology, 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."