Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.T171S

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.T171S
c.511A>T
Surrounding Variants
2 papers
NM_014625.4
p.L172V
c.514C>G
15 papers
NM_014625.4
p.L169P
c.506T>C
2 papers
NM_014625.4
p.L169F
c.505C>T
1 paper
NM_014625.4
p.L172_E173del1
c.515_517delCCA
1 paper
NM_014625.4
p.E173D
c.519G>T
1 paper
NM_014625.4
p.E173D
c.519G>C
45 papers
NM_014625.4
p.R168H
c.503G>A
19 papers
NM_014625.4
p.R168C
c.502C>T
8 papers
NM_014625.4
p.R168S
c.502C>A
3 papers
NM_014625.4
p.L167P
c.500T>C
5 papers
NM_014625.4
p.P175S
c.523C>T
1 paper
NM_014625.4
p.P175L
c.524C>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."