Varaico: Literature-Extracted Genetic Variants

Gene:VIM
Variant:p.R113C
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VIM

NM_003380.5:p.R113C

Associated Papers

Glial fibrillary acidic protein is pathologically modified in Alexander disease.

Lin NH et al.

The Journal of Biological Chemistry, 2024

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments.

Yang AW et al.

Molecular Biology of the Cell, 2022

35511821 (PubMed )
Supplement: mbc-33-ar69-s002.pdf

A dominant vimentin variant causes a rare syndrome with premature aging.

Cogné B et al.

European Journal of Human Genetics : Ejhg, 2020

Defect of mitotic vimentin phosphorylation causes microophthalmia and cataract via aneuploidy and senescence in lens epithelial cells.

Matsuyama M et al.

The Journal of Biological Chemistry, 2013

Functions of the intermediate filament cytoskeleton in the eye lens.

Song S et al.

The Journal of Clinical Investigation, 2009

Dominant cataract formation in association with a vimentin assembly disrupting mutation.

Müller M et al.

Human Molecular Genetics, 2009

A dominant vimentin mutant upregulates Hsp70 and the activity of the ubiquitin-proteasome system, and causes posterior cataracts in transgenic mice.

Bornheim R et al.

Journal of Cell Science, 2008

Mutations in vimentin disrupt the cytoskeleton in fibroblasts and delay execution of apoptosis.

Schietke R et al.

European Journal of Cell Biology, 2006

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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."