Varaico: Literature-Extracted Genetic Variants

Gene:NUP155
Variant:p.R391H
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NUP155

NM_153485.3:p.R391H

Associated Papers

From the sideline: Tissue-specific nucleoporin function in health and disease, an update.

Jühlen R et al.

Febs Letters, 2023

Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

van Wijk SW et al.

Cells, 2022

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Nucleoporins in cardiovascular disease.

Burdine RD et al.

Journal of Molecular and Cellular Cardiology, 2020

Protein Subdomain Enrichment of NUP155 Variants Identify a Novel Predicted Pathogenic Hotspot.

Leonard RJ et al.

Frontiers in Cardiovascular Medicine, 2020

Nucleoporin genes in human diseases.

Nofrini V et al.

European Journal of Human Genetics : Ejhg, 2016

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Improved understanding of the pathophysiology of atrial fibrillation through the lens of discrete pathological pathways.

Balouch MA et al.

Global Cardiology Science & Practice, 2014

Protein localization in disease and therapy.

Hung MC et al.

Journal of Cell Science, 2011

Monogenic atrial fibrillation as pathophysiological paradigms.

Mahida S et al.

Cardiovascular Research, 2011

Molecular genetics of atrial fibrillation.

Damani SB et al.

Genome Medicine, 2009

Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.

Zhang X et al.

Cell, 2008

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