Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S120P

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.S120P
c.358T>C
Surrounding Variants
1 paper
NM_014625.4
p.S120F
c.359C>T
1 paper
NM_014625.4
p.P118fs
c.352_353fs
1 paper
NM_014625.4
p.P118delFs
c.353delG
33 papers
NM_014625.4
p.P118L
c.353C>T
2 papers
NM_014625.4
p.W122L
c.365G>T
2 papers
NM_014625.4
p.W122S
c.365G>C
2 papers
NM_014625.4
p.W122*
c.365G>A
2 papers
NM_014625.4
p.W122*
c.366G>A
1 paper
NM_014625.4
p.T116S
c.347C>G
4 papers
NM_014625.4
p.C124R
c.370T>C
1 paper
NM_014625.4
p.T116S
c.346A>T
1 paper
NM_014625.4
p.T116P
c.346A>C
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."