Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.C193*

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
1 paper
NM_014625.4
p.C193*
c.579C>A
Surrounding Variants
2 papers
NM_014625.4
p.I192V
c.574A>G
7 papers
NM_014625.4
p.R196*
c.586C>T
1 paper
NM_014625.4
p.R196G
c.586C>G
1 paper
NM_014625.4
p.A191G
c.572C>G
1 paper
NM_014625.4
p.A191D
c.572C>A
3 papers
NM_014625.4
p.R196P
c.587G>C
1 paper
NM_014625.4
p.A191P
c.571G>C
1 paper
NM_014625.4
p.R196Q
c.587G>A
1 paper
NM_014625.4
p.D190insFs
c.568_569insT
1 paper
NM_014625.4
p.I189I
c.567A>T
1 paper
NM_014625.4
p.E198Q
c.592G>C
5 papers
NM_014625.4
p.E198A
c.593A>C
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