Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.F582Y
Back to variants list

DYNC1H1

NM_001376.5:p.F582Y

Associated Papers

A force-sensitive mutation reveals a non-canonical role for dynein in anaphase progression.

Salvador-Garcia D et al.

The Journal of Cell Biology, 2024

A force-sensitive mutation reveals a spindle assembly checkpoint-independent role for dynein in anaphase progression.

Salvador-Garcia D et al.

Biorxiv : the Preprint Server for Biology, 2023

A novel variant in DYNC1H1 could contribute to human amyotrophic lateral sclerosis-frontotemporal dementia spectrum.

Mentis AA et al.

Cold Spring Harbor Molecular Case Studies, 2022

DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein-dynactin-cargo adaptor complexes.

Hoang HT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

Willemsen MH et al.

Journal of Medical Genetics, 2012

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.

Weedon MN et al.

American Journal of Human Genetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."