Varaico: Literature-Extracted Genetic Variants

Gene:ACTA2
Variant:p.P166T
Back to variants list

ACTA2

NM_001613.4:p.P166T

Associated Papers

ACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.

Boerio ML et al.

Circulation. Genomic and Precision Medicine, 2026

Multifocal disease progression and subsequent intervention in patients with actin alpha-2 variants: A single-center experience.

Maigrot JA et al.

The Journal of Thoracic and Cardiovascular Surgery, 2024

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
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."