Varaico: Literature-Extracted Genetic Variants

Gene:KIF5A
Variant:p.R280S
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KIF5A

NM_004984.4:p.R280S

Associated Papers

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders.

Cozzi M et al.

Cell Death & Disease, 2024

39333504 (PubMed )
Supplement: 41419_2024_7096_MOESM2_ESM.docx

Structural consequences of hereditary spastic paraplegia disease-related mutations in kinesin.

Dutta M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

Theoretical Investigations of the Role of Mutations in Dynamics of Kinesin Motor Proteins.

Misiura M et al.

The Journal of Physical Chemistry. B, 2018

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.

Goizet C et al.

Human Mutation, 2009

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

Ebbing B et al.

Human Molecular Genetics, 2008

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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."