Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.R177H
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INF2

NM_022489.4:p.R177H

Associated Papers

Importance of family history and health checkup for school-aged children for type IV collagen-associated nephropathy in hereditary kidney disease.

Kawamoto R et al.

Journal of Nephrology, 2025

40753325 (PubMed )
Supplement: 40620_2025_2355_MOESM1_ESM.docx

Increased risk of kidney failure in patients with genetic kidney disorders.

Elliott MD et al.

The Journal of Clinical Investigation, 2024

39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2

Clinical and Pathological Heterogeneity in FSGS due to INF2 Mutations.

Morales-Alvarez MC et al.

Kidney International Reports, 2022

Role of formin INF2 in human diseases.

Zhao Y et al.

Molecular Biology Reports, 2022

Formins in Human Disease.

Labat-de-Hoz L et al.

Cells, 2021

The formin INF2 in disease: progress from 10 years of research.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2020

A Deregulated Stress Response Underlies Distinct INF2-Associated Disease Profiles.

Bayraktar S et al.

Journal of the American Society of Nephrology : Jasn, 2020

Thrombotic Microangiopathy in Inverted Formin 2-Mediated Renal Disease.

Challis RC et al.

Journal of the American Society of Nephrology : Jasn, 2017

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

Caridi G et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014

A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.

Sanchez-Ares M et al.

Kidney International, 2013

Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis.

Gbadegesin RA et al.

Kidney International, 2012

INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy.

Boyer O et al.

The New England Journal of Medicine, 2011

Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis.

Boyer O et al.

Journal of the American Society of Nephrology : Jasn, 2011

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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."