Varaico: Literature-Extracted Genetic Variants

Gene:ACTC1
Variant:p.R314C
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ACTC1

NM_005159.5:p.R314C

Associated Papers

Clinical Features and Prospective Outcomes of Thin-Filament Hypertrophic Cardiomyopathy: Intrinsic Data and Comparative Insights from Other Cohorts.

Chumakova OS et al.

Journal of Clinical Medicine, 2025

39941537 (PubMed )
Supplement: jcm-14-00866-s001.zip › jcm-3425548-supplementary.pdf

Biochemical characterization of cardiac α-actin mutations A21V and D26N implicated in hypertrophic cardiomyopathy.

Greve JN et al.

Cytoskeleton (hoboken, N.j.), 2024

Hypertrophic Cardiomyopathy in Underrepresented Populations: Clinical and Genetic Landscape Based on a Russian Single-Center Cohort Study.

Chumakova OS et al.

Genes, 2023

38002985 (PubMed )
Supplement: genes-14-02042-s001.zip › genes-2645868-supplementary.pdf

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

Novel phenotype-genotype correlations of hypertrophic cardiomyopathy caused by mutation in α-actin and myosin-binding protein genes in three unrelated Chinese families.

Yang QL et al.

Journal of Cardiology, 2019

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf

Achieving high-sensitivity for clinical applications using augmented exome sequencing.

Patwardhan A et al.

Genome Medicine, 2015

26269718 (PubMed )
Supplement: 13073_2015_197_MOESM8_ESM.xlsx › Sheet1
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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."