Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G55R

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.G55R
c.163G>C
Surrounding Variants
2 papers
NM_014625.4
p.G55R
c.163G>A
2 papers
NM_014625.4
p.P54L
c.161C>T
1 paper
NM_014625.4
p.E56*
c.166G>T
1 paper
NM_014625.4
p.E56fs
c.166_167fs
2 papers
NM_014625.4
p.T53T
c.159C>G
1 paper
NM_014625.4
p.E56V
c.167A>T
1 paper
NM_014625.4
p.E56G
c.167A>G
3 papers
NM_014625.4
p.E56delFs
c.167delT
3 papers
NM_014625.4
p.T53fs
c.157_158fs
1 paper
NM_014625.4
p.T53S
c.157A>T
4 papers
NM_014625.4
p.G52delFs
c.156delC
1 paper
NM_014625.4
p.P57R
c.170C>G
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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."