Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.S252R
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KIF1A

NM_001244008.2:p.S252R

Associated Papers

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q et al.

European Journal of Human Genetics : Ejhg, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG30

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder.

Boyle L et al.

Hgg Advances, 2021

33880452 (PubMed )
Supplement: mmc2.xlsx › Table_S4

Pathogenic mutations in the kinesin-3 motor KIF1A diminish force generation and movement through allosteric mechanisms.

Budaitis BG et al.

The Journal of Cell Biology, 2021

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Pennings M et al.

European Journal of Human Genetics : Ejhg, 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."