Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R229Q

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
Selected Variant
293 papers
NM_014625.4
p.R229Q
c.686G>A
Surrounding Variants
2 papers
NM_014625.4
p.R229L
c.686G>T
4 papers
NM_014625.4
p.R229*
c.685C>T
1 paper
NM_014625.4
p.R229G
c.685C>G
2 papers
NM_014625.4
p.H228D
c.682C>G
1 paper
NM_014625.4
p.S230delFs
c.689_690delGG
4 papers
NM_014625.4
p.T232I
c.695C>T
3 papers
NM_014625.4
p.R224H
c.671G>A
5 papers
NM_014625.4
p.R224C
c.670C>T
2 papers
NM_014625.4
p.L236delFs
c.706delG
2 papers
NM_014625.4
p.E237*
c.709G>T
27 papers
NM_014625.4
p.E237Q
c.709G>C
1 paper
NM_014625.4
p.E237K
c.709G>A
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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."