Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R133delFs

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.R133delFs
c.397delT
Surrounding Variants
1 paper
NM_014625.4
p.E132V
c.395A>T
1 paper
NM_014625.4
p.E132G
c.395A>G
1 paper
NM_014625.4
p.E132Q
c.394G>C
2 papers
NM_014625.4
p.Y131Y
c.393T>C
1 paper
NM_014625.4
p.I135_I136insC
c.403_407ins3
1 paper
NM_014625.4
p.I135T
c.404T>C
3 papers
NM_014625.4
p.I136L
c.406A>T
3 papers
NM_014625.4
p.I136L
c.406A>C
4 papers
NM_014625.4
p.E130K
c.388G>A
1 paper
NM_014625.4
p.I136I
c.408A>T
1 paper
NM_014625.4
p.F137Y
c.410T>A
7 papers
NM_014625.4
p.Q129*
c.385C>T
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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."