Varaico: Literature-Extracted Genetic Variants

Gene:GATA4
Variant:p.G296S
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GATA4

NM_002052.5:p.G296S

Associated Papers

Characterization of a Novel GATA4 Missense Variant p.Gly303Trp in a Family with Septal Heart Defects and Pulmonary Stenosis.

Fabiani M et al.

International Journal of Molecular Sciences, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Genetic Insights into Congenital Cardiac Septal Defects-A Narrative Review.

Cervantes-Salazar JL et al.

Biology, 2024

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease.

Fear VS et al.

Stem Cell Research & Therapy, 2023

The nuclear receptor ERR cooperates with the cardiogenic factor GATA4 to orchestrate cardiomyocyte maturation.

Sakamoto T et al.

Nature Communications, 2022

The M310T mutation in the GATA4 gene is a novel pathogenic target of the familial atrial septal defect.

Bu H et al.

Bmc Cardiovascular Disorders, 2021

In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.

Abbasi S et al.

Journal of Cardiovascular and Thoracic Research, 2021

Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro.

Fang T et al.

Molecular Medicine Reports, 2019

A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis.

Xiang R et al.

Gene, 2014

Mutation spectrum of GATA4 associated with congenital atrial septal defects.

Yang YQ et al.

Archives of Medical Science : Ams, 2013

GATA4 loss-of-function mutations underlie familial tetralogy of fallot.

Yang YQ et al.

Human Mutation, 2013

Novel GATA4 mutations in patients with congenital ventricular septal defects.

Yang YQ et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012

Involvement of a novel GATA4 mutation in atrial septal defects.

Liu XY et al.

International Journal of Molecular Medicine, 2011

Mutations of the GATA4 and NKX2.5 genes in Chinese pediatric patients with non-familial congenital heart disease.

Peng T et al.

Genetica, 2010

A novel mutation in GATA4 gene associated with dominant inherited familial atrial septal defect.

Chen Y et al.

The Journal of Thoracic and Cardiovascular Surgery, 2010

[Novel GATA4 mutations identified in patients with congenital heart disease].

Wang J et al.

Zhonghua Yi Xue Za Zhi, 2010

Spectrum of heart disease associated with murine and human GATA4 mutation.

Rajagopal SK et al.

Journal of Molecular and Cellular Cardiology, 2007

Isolation, characterization and genetic analysis of canine GATA4 gene in a family of Doberman Pinschers with an atrial septal defect.

Lee SA et al.

Journal of Genetics, 2007

Mutations in the 3'-untranslated region of GATA4 as molecular hotspots for congenital heart disease (CHD).

Reamon-Buettner SM et al.

Bmc Medical Genetics, 2007

Missense mutation G296S in GATA4 is not responsible for cardiac septal defects.

Ramegowda S et al.

Indian Journal of Human Genetics, 2007

Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect.

Hirayama-Yamada K et al.

American Journal of Medical Genetics. Part A, 2005

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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."