Varaico: Literature-Extracted Genetic Variants

Gene:ANLN
Variant:p.R431C
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ANLN

NM_018685.5:p.R431C

Associated Papers

Clinical and genetic diagnosis of a patient with focal segmental glomerulosclerosis due to a novel variant of the ANLN gene.

Zhang J et al.

Cen Case Reports, 2026

Effects of a novel ANLN E841K mutation associated with SRNS on podocytes and its mechanism.

Lin L et al.

Cell Communication and Signaling : Ccs, 2023

Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.

Bowling KM et al.

Genome Medicine, 2022

A Puffy Child - A Rare Case of Steroid Resistant Nephrotic Syndrome with ANLN Mutation.

Geminiganesan S et al.

Ejifcc, 2021

Treatment of steroid-resistant nephrotic syndrome in the genomic era.

Bensimhon AR et al.

Pediatric Nephrology (berlin, Germany), 2019

The Human FSGS-Causing ANLN R431C Mutation Induces Dysregulated PI3K/AKT/mTOR/Rac1 Signaling in Podocytes.

Hall G et al.

Journal of the American Society of Nephrology : Jasn, 2018

Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.

Liu J et al.

Frontiers of Medicine, 2017

The genomic landscape of pediatric Ewing sarcoma.

Crompton BD et al.

Cancer Discovery, 2014

25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613704_ndcnpj.xlsx › Mutation_List_PoN

Mutations in the gene that encodes the F-actin binding protein anillin cause FSGS.

Gbadegesin RA et al.

Journal of the American Society of Nephrology : Jasn, 2014

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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."