Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E56delFs

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
3 papers
NM_014625.4
p.E56delFs
c.167delT
Surrounding Variants
1 paper
NM_014625.4
p.E56V
c.167A>T
1 paper
NM_014625.4
p.E56G
c.167A>G
1 paper
NM_014625.4
p.E56*
c.166G>T
1 paper
NM_014625.4
p.E56fs
c.166_167fs
1 paper
NM_014625.4
p.P57R
c.170C>G
1 paper
NM_014625.4
p.A51_P57insFs
c.151_170dup20
1 paper
NM_014625.4
p.R58L
c.173G>T
2 papers
NM_014625.4
p.G55R
c.163G>C
2 papers
NM_014625.4
p.G55R
c.163G>A
1 paper
NM_014625.4
p.R58R
c.174A>T
1 paper
NM_014625.4
p.A59fs
c.175_176fs
2 papers
NM_014625.4
p.P54L
c.161C>T
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