Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2

NPHS2

609 papers

RefSeq Summary

This gene encodes a protein that plays a role in the regulation of glomerular permeability. Mutations in this gene cause steroid-resistant nephrotic syndrome. Alternative splicing results in multiple ...

Pfam Domains

Band_7aa 126–299UCSCSPFH domain / Band 7 family

Gene Aliases

HGNC Name

NPHS2 stomatin family member, podocin

HGNC Alias Symbols

SRN1; PDCN

Papers
RefSeq ID
Protein change
DNA change
1–12 of 600 variants
293 papers
NM_014625.4
p.R229Q
c.686G>A
171 papers
NM_014625.4
p.R138Q
c.413G>A
60 papers
NM_014625.4
p.R138*
c.412C>T
53 papers
NM_014625.4
p.P20L
c.59C>T
52 papers
NM_014625.4
p.V180M
c.538G>A
45 papers
NM_014625.4
p.R168H
c.503G>A
43 papers
NM_014625.4
p.R291W
c.871C>T
42 papers
NM_014625.4
p.V290M
c.868G>A
39 papers
NM_014625.4
p.A284V
c.851C>T
35 papers
NM_014625.4
p.L156insFs
c.467dupT
35 papers
NM_014625.4
p.V260E
c.779T>A
33 papers
NM_014625.4
p.P118L
c.353C>T
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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."