Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.R204P
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KIF5A

NM_004984.4:p.R204P

Associated Papers

Clinical and functional analysis of KIF5A related spastic paraplegia type 10.

Tian W et al.

Parkinsonism & Related Disorders, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG10

A multiscale approach reveals the molecular architecture of the autoinhibited kinesin KIF5A.

Carrington G et al.

The Journal of Biological Chemistry, 2024

38309508 (PubMed )
Supplement: mmc1.pdf

Genotype-phenotype correlations of KIF5A stalk domain variants.

de Boer EMJ et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2021

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.

Rydzanicz M et al.

Clinical Genetics, 2017

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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."