Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.Y306C
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KIF1A

NM_001244008.2:p.Y306C

Associated Papers

KIF1A-associated neurological disorders: therapeutic opportunities and challenges.

Lin Q et al.

European Journal of Human Genetics : Ejhg, 2025

Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.

Rao L et al.

Biomolecules, 2025

Distinct Clinical Phenotypes in KIF1A-Associated Neurological Disorders Result from Different Amino Acid Substitutions at the Same Residue in KIF1A.

Rao L et al.

Biorxiv : the Preprint Server for Biology, 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

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

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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."