Varaico: Literature-Extracted Genetic Variants

Gene:ACTA1
Variant:p.D53V
Back to variants list

ACTA1

NM_001100.4:p.D53V

Associated Papers

Integrated single-cell functional-proteomic profiling reveals a shift in myofibre specificity in human nemaline myopathy: A proof-of-principle study.

Seaborne RAE et al.

The Journal of Physiology, 2025

Human skeletal muscle fiber heterogeneity beyond myosin heavy chains.

Moreno-Justicia R et al.

Nature Communications, 2025

39971958 (PubMed )
Supplement: 41467_2025_56896_MOESM1_ESM.pdf

An Update on Reported Variants in the Skeletal Muscle α-Actin (ACTA1) Gene.

Clayton JS et al.

Human Mutation, 2024

40225930 (PubMed )
Supplement: 6496088.f2.xlsx › 2.2_Pathogenicity
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."