Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.A59E

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.A59E
c.176C>A
Surrounding Variants
2 papers
NM_014625.4
p.A59G
c.176C>G
1 paper
NM_014625.4
p.A59fs
c.175_176fs
1 paper
NM_014625.4
p.R58R
c.174A>T
1 paper
NM_014625.4
p.R58L
c.173G>T
1 paper
NM_014625.4
p.A51_P57insFs
c.151_170dup20
9 papers
NM_014625.4
p.A61V
c.182C>T
1 paper
NM_014625.4
p.P57R
c.170C>G
3 papers
NM_014625.4
p.E56delFs
c.167delT
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
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."