Varaico: Literature-Extracted Genetic Variants

Gene:NEXN
Variant:p.Q131E
Back to variants list

NEXN

NM_144573.4:p.Q131E

Associated Papers

Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.

Rahimzadeh M et al.

Heart Failure Reviews, 2024

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

Hermida A et al.

Circulation. Genomic and Precision Medicine, 2024

Structural and signaling proteins in the Z-disk and their role in cardiomyopathies.

Noureddine M et al.

Frontiers in Physiology, 2023

A unique case of left ventricle apical hypoplasia presenting with a type 1 Brugada ECG pattern and NEXN mutation. Are they related?

Marinelli A et al.

Heartrhythm Case Reports, 2021

Whole genome and transcriptome sequencing of post-mortem cardiac tissues from sudden cardiac death victims identifies a gene regulatory variant in NEXN.

Andersen JD et al.

International Journal of Legal Medicine, 2019

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.

Walsh R et al.

European Heart Journal, 2017

28082330 (PubMed )
Supplement: ehw603_supplementary_tables_s1_s5_s7.xlsx › Table_S5

NEXN inhibits GATA4 and leads to atrial septal defects in mice and humans.

Yang F et al.

Cardiovascular Research, 2014

Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

Wang H et al.

American Journal of Human Genetics, 2010

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."