Varaico: Literature-Extracted Genetic Variants

Gene:ACTN4
Variant:p.Y265H
Back to variants list

ACTN4

NM_004924.6:p.Y265H

Associated Papers

Early use of renin-angiotensin-aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review.

Miyasako K et al.

Bmc Nephrology, 2025

A pediatric-onset case of chronic kidney disease caused by a novel sporadic ACTN4 variant and literature review.

Li W et al.

The Turkish Journal of Pediatrics, 2025

Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China.

Cao S et al.

Genetic Testing and Molecular Biomarkers, 2024

Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease.

He Z et al.

Frontiers in Pediatrics, 2022

Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy.

Meng L et al.

Biomed Research International, 2019

Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.

Feng D et al.

Plos One, 2016

A familial childhood-onset relapsing nephrotic syndrome.

Kitamura A et al.

Kidney International, 2007

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."