Varaico: Literature-Extracted Genetic Variants

Gene:ACTN2
Variant:p.R492*
Back to variants list

ACTN2

NM_001103.4:p.R492*

Associated Papers

Negative Selection Maintains Grossly Altered but Broadly Stable Karyotypes in Metastatic Colorectal Cancer.

Cross WCH et al.

Cancer Discovery, 2026

41563072 (PubMed )
Supplement: cd-24-0813_supplementary_table_7_suppst7.xlsx › C274

Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.

Hirono K et al.

Journal of the American Heart Association, 2024

39494597 (PubMed )
Supplement: JAH3-13-e035614-s001.pdf

Mutation update for the ACTN2 gene.

Ranta-Aho J et al.

Human Mutation, 2022

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."