Varaico: Literature-Extracted Genetic Variants

Gene:KIF1C
Variant:p.G102A
Back to variants list

KIF1C

NM_006612.6:p.G102A

Associated Papers

A Novel Homozygous KIF1C Variant in 2 Cases of Spastic Ataxia Type 2.

Granath K et al.

Neurology. Genetics, 2025

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

Human phenotype caused by biallelic KDM4B frameshift variant.

Takada S et al.

Clinical Genetics, 2024

The kinesin motor KIF1C is a putative transporter of the exon junction complex in neuronal cells.

Nagel M et al.

Rna (new York, N.y.), 2022

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

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

Caballero Oteyza A et al.

Neurology, 2014

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."