Varaico: Literature-Extracted Genetic Variants

Gene:CHMP2B
Variant:p.M178V
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CHMP2B

NM_014043.4:p.M178V

Associated Papers

Axonal transport of CHMP2b is regulated by kinesin-binding protein and disrupted by CHMP2bintron5.

Kirwan KR et al.

Life Science Alliance, 2025

Nuclear and degradative functions of the ESCRT-III pathway: implications for neurodegenerative disease.

Keeley O et al.

Nucleus (austin, Tex.), 2024

Lessons learned from CHMP2B, implications for frontotemporal dementia and amyotrophic lateral sclerosis.

Ugbode C et al.

Neurobiology of Disease, 2021

The role of CHMP2BIntron5 in autophagy and frontotemporal dementia.

Krasniak CS et al.

Brain Research, 2016

Genetic screen identifies serpin5 as a regulator of the toll pathway and CHMP2B toxicity associated with frontotemporal dementia.

Ahmad ST et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

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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."