Varaico: Literature-Extracted Genetic Variants

Gene:KIF5C
Variant:p.T93N
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KIF5C

NM_004522.3:p.T93N

Associated Papers

Pathogenic KIF5C mutation disrupts dendritic spine maturation and mitochondrial trafficking in neurodevelopmental disorders.

Wang X et al.

Neurobiology of Disease, 2025

Expanding the Molecular and Clinical Phenotype of Patients With De Novo Variants in KIF5C: A Six Patient Case Series.

Gracie S et al.

American Journal of Medical Genetics. Part A, 2025

Kinesin expands and stabilizes the GDP-microtubule lattice.

Peet DR et al.

Nature Nanotechnology, 2018

FUS inclusions disrupt RNA localization by sequestering kinesin-1 and inhibiting microtubule detyrosination.

Yasuda K et al.

The Journal of Cell Biology, 2017

The yeast dynein Dyn2-Pac11 complex is a dynein dimerization/processivity factor: structural and single-molecule characterization.

Rao L et al.

Molecular Biology of the Cell, 2013

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

Poirier K et al.

Nature Genetics, 2013

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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."