Varaico: Literature-Extracted Genetic Variants

Gene:KIF1B
Variant:p.Q98L
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KIF1B

NM_001365951.3:p.Q98L

Associated Papers

KIF1Bβ suppresses hepatocellular carcinoma by transporting and secreting FBLN5 to attenuate the integrin pathway.

Gao C et al.

Gut, 2025

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

Characterizing human KIF1Bβ motor activity by single-molecule motility assays and Caenorhabditis elegans genetics.

Iguchi R et al.

Journal of Cell Science, 2024

Presynaptic perspective: Axonal transport defects in neurodevelopmental disorders.

Xiong GJ et al.

The Journal of Cell Biology, 2024

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

Lysosome motility and distribution: Relevance in health and disease.

Oyarzún JE et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2019

KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth.

Xu F et al.

The Journal of Cell Biology, 2018

Neuroblast differentiation during development and in neuroblastoma requires KIF1Bβ-mediated transport of TRKA.

Fell SM et al.

Genes & Development, 2017

Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.

Timmerman V et al.

Genes, 2014

Microtubule defects & Neurodegeneration.

Baird FJ et al.

Journal of Genetic Syndromes & Gene Therapy, 2013

Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity.

Boyden ED et al.

American Journal of Human Genetics, 2011

Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.

Ajroud-Driss S et al.

Current Neurology and Neuroscience Reports, 2011

KIF1Bbeta functions as a haploinsufficient tumor suppressor gene mapped to chromosome 1p36.2 by inducing apoptotic cell death.

Munirajan AK et al.

The Journal of Biological Chemistry, 2008

Absence of KIF1B mutation in a large Turkish CMT2A family suggests involvement of a second gene.

Bissar-Tadmouri N et al.

Neurology, 2004

A novel kinesin-like protein, KIF1Bbeta3 is involved in the movement of lysosomes to the cell periphery in non-neuronal cells.

Matsushita M et al.

Traffic (copenhagen, Denmark), 2004

Mouse models of Charcot-Marie-Tooth disease.

Tanaka Y et al.

Trends in Genetics : Tig, 2002

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.

Zhao C et al.

Cell, 2001

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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."