Varaico: Literature-Extracted Genetic Variants

Gene:ACTN3
Variant:p.R577*
Back to variants list

ACTN3

NM_001104.4:p.R577*

Associated Papers

Alpha-Actinin-3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models.

Santos RB et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2026

Association of the ACTN3 Genotype with Muscle Function: A Systematic Review and Meta-analysis.

Kamiya-Saito M et al.

International Journal of Sports Medicine, 2026

Role of muscle-related genes in sleep bruxism : Understanding the genetic aspect of this behavior.

Weber KR et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2025

Prevalence of ACE I/D and ACTN3 R577X genetic polymorphisms in Taekwondo athletes.

Goulart CC et al.

Physiology International, 2025

ACTN3 R577X (rs1815739) Polymorphism and Athlete Status: An Additional Case-Control Association Study and Meta-Analysis.

Chelly A et al.

Journal of Strength and Conditioning Research, 2025

Muscle-specific increased expression of JAG1 improves the skeletal muscle phenotype in dystrophin-deficient mice.

de Souza Leite F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

The ACTN-3 c.1729C>T (rs1815739) Polymorphism Is Associated with Match-Play Maximal Running Speed in Elite Football Players: A Preliminary Report.

Massidda M et al.

Sports (basel, Switzerland), 2025

The ACTN3 R577X Nonsense Allele Is Underrepresented in Professional Volleyball Players and Associated with an Increased Risk of Muscle Injury in Female Players.

Cerit M et al.

Genes, 2025

Impact of polymorphisms on gene expression and splicing in response to exercise and diet-induced weight loss in human skeletal muscle tissues.

Wang W et al.

Cell Genomics, 2025

40683252 (PubMed )
Supplement: mmc1.pdf

ACTN3 genotype influences androgen response in developing murine skeletal muscle.

Roeszler KN et al.

Science Advances, 2025

A common variant in NID1 gene associated with the prognosis of heart failure.

Hu D et al.

Human Heredity, 2025

Role of ACTN3 Gene rs1815739 Polymorphism and Its Effects on Mandibular Morphogenesis.

George AM et al.

Orthodontics & Craniofacial Research, 2025

Genetic Factors of Elite Wrestling Status: A Multi-Ethnic Comparative Study.

Kozuma A et al.

Genes, 2025

Relative Age Effect and ACTN3 R577X and ACE I/D Polymorphisms in Brazilian Football Players: An Association Genetic Study.

Albuquerque MR et al.

Research Quarterly for Exercise and Sport, 2025

The frequency of the ACTN3 polymorphism in Brazil: a systematic review and meta-analysis.

Silvino VO et al.

Bmc Medical Genomics, 2025

Genomic alterations in normal breast tissues preceding breast cancer diagnosis.

Dai J et al.

Breast Cancer Research : Bcr, 2025

40264151 (PubMed )
Supplement: 13058_2025_2018_MOESM1_ESM.xlsx › Table_S1

Influence of Genetic Polymorphisms and Biochemical Biomarkers on Response to Nutritional Iron Supplementation and Performance in a Professional Football Team: A Pilot Longitudinal Study.

Varillas-Delgado D

Nutrients, 2025

Genetic Profiling and Performance Optimization in Elite Combat Sport Athletes: A Cross-Sectional Study Based on Total Genetic Score Analysis.

Pagliaro A et al.

Genes, 2025

Polymorphisms of PPARα and ACTN3 Among Adolescent Egyptian Athletes: A Case-Control Study.

Ramadan W et al.

Life (basel, Switzerland), 2025

The Distribution of Sport Performance Gene Variations Through COVID-19 Disease Severity.

Yenmis G et al.

Diagnostics (basel, Switzerland), 2025

Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.

Noureddine M et al.

The Journal of General Physiology, 2025

Are the Positions in the Word Ranking of Competitive Alpine Skiers Explainable by Prominent Polymorphisms in Regulatory Genes of Mechanical and Metabolic Muscle Functioning?

Gasser B et al.

Research Quarterly for Exercise and Sport, 2025

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

Association between ACTN3 (R577X), BDKRB2 (-9/+9) and AGT (M235T) polymorphisms and physical performance in Brazilian junior handball players.

Silvino VO et al.

Scientific Reports, 2025

Association of alpha-actinin-3 genotype with muscle mass and physical function in community-dwelling older adults.

Shiratsuchi D et al.

European Geriatric Medicine, 2025

Influence of exercise and dietary habits on the association of alpha-actinin-3 gene polymorphisms with physical function and body composition in community-dwelling individuals aged 60 years and older.

Shiratsuchi D et al.

Geriatrics & Gerontology International, 2025

Genomic exploration of pediatric neurological disorders: a case series.

Tayade N et al.

Journal of Medical Case Reports, 2025

Clinical and imaging spectrum of non-congenital dominant ACTN2 myopathy.

Iruzubieta P et al.

Journal of Neurology, 2025

Prognostic significance of ACTN3 genotype in Duchenne muscular dystrophy: Findings from an Argentine patient cohort.

Luce L et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2025

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Genetic polymorphisms and bruxism: A scoping review.

Oliveira JMD et al.

Sleep Medicine, 2024

The association between interleukin-8 gene polymorphism and the risk of sepsis in older adults.

Han T et al.

Journal of Orthopaedic Surgery and Research, 2024

Comparison of athletic performance of Turkish ice hockey players with ACE I/D (rs1799752), ACTN3 (rs1815739), PPARA (rs4253778) and HIF1A (rs11549465) polymorphisms.

Doğan CS et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2024

Impact of Genetic Polymorphisms on Electrochemical Parameters and Acid-Base Disorders in Brazilian Runners During a 105-Kilometer Ultramarathon.

Ribas MR et al.

Nutrients, 2024

The Genetic Basis of Non-Contact Soft Tissue Injuries-Are There Practical Applications of Genetic Knowledge?

Borzemska B et al.

Cells, 2024

The frequency of the ACE I/D polymorphism in South America: a systematic review and meta-analysis.

Trevisano RG et al.

Molecular and Cellular Biochemistry, 2024

Increased prevalence of the null allele of the p.Arg577Ter variant in the ACTN3 gene in Brazilian long-distance athletes: A retrospective study.

Guilherme JPLF et al.

Annals of Human Genetics, 2024

Influence of genetic polymorphism on sports talent performance versus non-athletes: a systematic review and meta-analysis.

Ferreira CP et al.

Bmc Sports Science, Medicine & Rehabilitation, 2024

Exploring etiologic contributions to the occurrence of external apical root resorption.

Burnheimer JM et al.

American Journal of Orthodontics and Dentofacial Orthopedics : Official Publication of the American Association of Orthodontists, Its Constituent Societies, and the American Board of Orthodontics, 2024

Association between Complex ACTN3 and ACE Gene Polymorphisms and Elite Endurance Sports in Koreans: A Case-Control Study.

Chae JH et al.

Genes, 2024

The Genetic Profile of Combat Sport Athletes: A Systematic Review of Physiological, Psychological and Injury Risk Determinants.

Anastasiou K et al.

International Journal of Environmental Research and Public Health, 2024

The Association of Genetic Markers Involved in Muscle Performance Responding to Lactate Levels during Physical Exercise Therapy by Nordic Walking in Patients with Long COVID Syndrome: A Nonrandomized Controlled Pilot Study.

Lizcano-Álvarez Á et al.

International Journal of Molecular Sciences, 2024

Influence of ACTN3 R577X Polymorphism on Blood Creatine Kinase Levels Relative to Number of Sprints in Brazilian Professional Soccer Players.

de Almeida KY et al.

Genes, 2024

1–50 of 397 papers
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."