Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.A13T
Back to variants list

INF2

NM_022489.4:p.A13T

Associated Papers

Regulation of the formin INF2 by actin monomers and calcium/calmodulin.

Lee M et al.

The Journal of Cell Biology, 2026

Regulation of the formin INF2 by actin monomers and calcium-calmodulin.

Lee M et al.

Biorxiv : the Preprint Server for Biology, 2025

Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1

INF2 mutations in patients with a broad phenotypic spectrum of Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

Park JH et al.

Journal of the Peripheral Nervous System : Jpns, 2023

Structure and function of the N-terminal extension of the formin INF2.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Role of formin INF2 in human diseases.

Zhao Y et al.

Molecular Biology Reports, 2022

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

Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.

Sampson MG et al.

Journal of the American Society of Nephrology : Jasn, 2016

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

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

Barua M et al.

Kidney International, 2013

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

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

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis.

Brown EJ et al.

Nature Genetics, 2010

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."