Varaico: Literature-Extracted Genetic Variants

Gene:KIF5C
Variant:p.K253N
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KIF5C

NM_004522.3:p.K253N

Associated Papers

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

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

Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia.

Kawaguchi K

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2013

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."