Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.D160G
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NPHS2

NM_014625.4:p.D160G

Associated Papers

Structural basis for membrane microdomain formation by a human Stomatin complex.

Stoner J et al.

Nature Communications, 2025

Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.

Shojaei A et al.

Iranian Journal of Kidney Diseases, 2019

Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children.

Joshi BB et al.

Gene, 2017

Steroid Resistant Nephrotic Syndrome-Genetic Consideration.

Tasic V et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015

NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians.

Jaffer A et al.

Nephrology (carlton, Vic.), 2014

Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach.

Tabassum A et al.

Interdisciplinary Sciences, Computational Life Sciences, 2014

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

Bouchireb K et al.

Human Mutation, 2014

NPHS2 variation in focal and segmental glomerulosclerosis.

Tonna SJ et al.

Bmc Nephrology, 2008

Electronic microarray screening of podocin mutations: a single-center study.

Sakallioglu O et al.

International Urology and Nephrology, 2008

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

Caridi G et al.

Pediatric Research, 2005

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

Weber S et al.

Kidney International, 2004

Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.

Roselli S et al.

Traffic (copenhagen, Denmark), 2004

[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].

Boute N et al.

Nephrologie, 2002

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.

Boute N et al.

Nature Genetics, 2000

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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."