Varaico: Literature-Extracted Genetic Variants

Gene:VIM
Variant:p.E151K
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VIM

NM_003380.5:p.E151K

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

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

Cogné B et al.

European Journal of Human Genetics : Ejhg, 2020

Type III intermediate filaments as targets and effectors of electrophiles and oxidants.

Viedma-Poyatos Á et al.

Redox Biology, 2020

Two Pathogenic Gene Mutations Identified Associating with Congenital Cataract and Iris Coloboma Respectively in a Chinese Family.

Li B et al.

Journal of Ophthalmology, 2020

32148946 (PubMed )
Supplement: 7054315.f1.pdf

Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.

Zhai Y et al.

Scientific Reports, 2017

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS et al.

Human Mutation, 2016

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

Corneal antifibrotic switch identified in genetic and pharmacological deficiency of vimentin.

Bargagna-Mohan P et al.

The Journal of Biological Chemistry, 2012

Clinical and experimental advances in congenital and paediatric cataracts.

Churchill A et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2011

Intermediate filaments: primary determinants of cell architecture and plasticity.

Herrmann H 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

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

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