Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.A242V
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NPHS2

NM_014625.4:p.A242V

Associated Papers

NPHS2 gene polymorphism aggravates renal damage caused by focal segmental glomerulosclerosis with COL4A3 mutation.

Sun L et al.

Bioscience Reports, 2021

Case Report: The Monogenic Familial Steroid-Resistant Nephrotic Syndrome Caused by a Novel Missense Mutation of NPHS2 Gene A593C in a Chinese Family.

Bai L et al.

Frontiers in Pediatrics, 2021

Prevalence of the NPHS2 variants p.R229Q, p.A242V, and p.R138Q in patients with focal segmental glomerulosclerosis.

de Almeida R et al.

Clinical Nephrology, 2020

The podocin V260E mutation predicts steroid resistant nephrotic syndrome in black South African children with focal segmental glomerulosclerosis.

Govender MA et al.

Communications Biology, 2019

NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.

Asharam K et al.

Kidney International Reports, 2018

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix

Clinical Features and Histology of Apolipoprotein L1-Associated Nephropathy in the FSGS Clinical Trial.

Kopp JB et al.

Journal of the American Society of Nephrology : Jasn, 2015

The amino acid mutations of the podocin in proteinuria: a meta-analysis.

Lu L et al.

Renal Failure, 2015

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

Bouchireb K et al.

Human Mutation, 2014

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.

Büscher AK et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

[Mutations in NPHS2 in familial steroid-resistant nephrotic syndrome in Southern Chinese Han ethnic group].

Fu R et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.

Berdeli A et al.

Pediatric Nephrology (berlin, Germany), 2007

NPHS2 variation in sporadic focal segmental glomerulosclerosis.

McKenzie LM et al.

Journal of the American Society of Nephrology : Jasn, 2007

Recessive NPHS2 (Podocin) mutations are rare in adult-onset idiopathic focal segmental glomerulosclerosis.

He N et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2007

NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.

Franceschini N et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.

Dusel JA et al.

Kidney International, 2005

NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.

Caridi G et al.

Pediatric Research, 2005

No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.

Schultheiss M et al.

Pediatric Nephrology (berlin, Germany), 2004

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

Weber S et al.

Kidney International, 2004

Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.

Ruf RG et al.

Journal of the American Society of Nephrology : Jasn, 2004

Broadening the spectrum of diseases related to podocin mutations.

Caridi G et al.

Journal of the American Society of Nephrology : Jasn, 2003

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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."