Varaico: Literature-Extracted Genetic Variants

Gene:FN1
Variant:p.Y973C
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FN1

NM_212482.4:p.Y973C

Associated Papers

Fibronectin glomerulopathy caused by genetic FN1 mutation: A case report and literature review.

Shi B et al.

Clinical Nephrology, 2026

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

[Glomerulopathy with fibronectin deposits caused by FN1 gene mutation: A familial case report and literature review].

Chen Q et al.

Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2025

Clinicopathological features of familial fibronectin glomerulopathy caused by a splice site variant in the Fibronectin 1 gene: a case report.

Nagayama Y et al.

Cen Case Reports, 2025

Fibronectin glomerulopathy in an elderly patient with FN1 gene mutation: a case report and literature review.

Choi JY et al.

Bmc Nephrology, 2024

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease.

Jensen AMG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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

Fibronectin glomerulopathy in a kidney allograft biopsy.

Klair N et al.

Bmc Nephrology, 2023

Prednisone-induced sustained remission in a patient with familial fibronectin glomerulopathy (GFND).

Goldman BI et al.

Cen Case Reports, 2021

Extraglomerular Vascular Involvement of Glomerulopathy with Fibronectin Deposits.

Hara M et al.

Internal Medicine (tokyo, Japan), 2021

Clinical impact of genomic testing in patients with suspected monogenic kidney disease.

Jayasinghe K et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32939031 (PubMed )
Supplement: 41436_2020_963_MOESM3_ESM.xlsx › Sheet1

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

Clinicopathologic Features and Outcomes in Fibronectin Glomerulopathy: A Case Series of 19 Patients.

Zhang T et al.

Frontiers in Medicine, 2020

A novel variant in FN1 in a family with fibronectin glomerulopathy.

Aslam N et al.

Human Genome Variation, 2019

Fibronectin Glomerulopathy Caused by the Y973C Mutation in Fibronectin: A Case Report and Literature Review.

Li C et al.

Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2018

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Lee CS et al.

American Journal of Human Genetics, 2017

Fibronectin Glomerulopathy: A Rare Autosomal Dominant Glomerular Disease.

Wu J et al.

Chinese Medical Journal, 2017

Fibronectin glomerulopathy complicated with persistent cloaca and congenital esophageal atresia: a case report and literature review.

Takii M et al.

Bmc Nephrology, 2017

Fibronectin Conformation and Assembly: Analysis of Fibronectin Deletion Mutants and Fibronectin Glomerulopathy (GFND) Mutants.

Ohashi T et al.

Biochemistry, 2017

Identification of mutations in FN1 leading to glomerulopathy with fibronectin deposits.

Ohtsubo H et al.

Pediatric Nephrology (berlin, Germany), 2016

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

Molecular genetics of familial hematuric diseases.

Deltas C et al.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2013

A case of familial glomerulopathy with fibronectin deposits caused by the Y973C mutation in fibronectin.

Ertoy Baydar D et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2013

Fibronectin glomerulopathy: an unusual cause of adult-onset nephrotic syndrome.

Nadamuni M et al.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2012

Mutations in FN1 cause glomerulopathy with fibronectin deposits.

Castelletti F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."