Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.E239K
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KIF1A

NM_001244008.2:p.E239K

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

UNC-10/SYD-2 links kinesin-3 to RAB-3-containing vesicles in the absence of the motor's PH domain.

Bayansan O et al.

Neurobiology of Disease, 2025

Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.

Xiong GJ et al.

The Journal of Cell Biology, 2024

Insight into the regulation of axonal transport from the study of KIF1A-associated neurological disorder.

Chiba K et al.

Journal of Cell Science, 2023

A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle.

Morikawa M et al.

The Embo Journal, 2022

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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."