Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.G247D
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ACTC1

NM_005159.5:p.G247D

Associated Papers

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Zarate YA et al.

Clinical Genetics, 2025

Hypertrophic Cardiomyopathy: Genes and Mechanisms.

Chen J et al.

Frontiers in Bioscience (landmark Edition), 2025

A De Novo Mutation in ACTC1 and a TTN Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.

Acuña-Ochoa JG et al.

Case Reports in Genetics, 2024

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Hgg Advances, 2023

37457373 (PubMed )
Supplement: mmc2.xlsx › Table_S1

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects.

Chong JX et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

36945405 (PubMed )
Supplement: media-2.xlsx › Table_S1

Actin polymerization and depolymerization in developing vertebrates.

Bai Y et al.

Frontiers in Physiology, 2023

Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments.

Orphanou N et al.

Heart Failure Reviews, 2022

Data on the role of cardiac α-actin (ACTC1) gene mutations on SRF-signaling.

Rangrez AY et al.

Data in Brief, 2020

A cardiac α-actin (ACTC1) p. Gly247Asp mutation inhibits SRF-signaling in vitro in neonatal rat cardiomyocytes.

Rangrez AY et al.

Biochemical and Biophysical Research Communications, 2019

Cardiac α-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.

Frank D et al.

Circulation. Genomic and Precision Medicine, 2019

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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."