Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.N199I

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
2 papers
NM_014625.4
p.N199I
c.596A>T
Surrounding Variants
1 paper
NM_014625.4
p.N199S
c.596A>G
3 papers
NM_014625.4
p.N199insFs
c.596dupA
1 paper
NM_014625.4
p.N199K
c.597T>G
1 paper
NM_014625.4
p.N199K
c.597T>A
4 papers
NM_014625.4
p.N199fs
c.595_596fs
1 paper
NM_014625.4
p.A200V
c.599C>T
5 papers
NM_014625.4
p.E198A
c.593A>C
1 paper
NM_014625.4
p.E198Q
c.592G>C
1 paper
NM_014625.4
p.S201Y
c.602C>A
3 papers
NM_014625.4
p.R196P
c.587G>C
1 paper
NM_014625.4
p.R196Q
c.587G>A
7 papers
NM_014625.4
p.R196*
c.586C>T
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