Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.L156fs

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
17 papers
NM_014625.4
p.L156fs
c.466_467fs
Surrounding Variants
1 paper
NM_014625.4
p.L156*
c.467T>A
1 paper
NM_014625.4
p.L156F
c.468G>T
35 papers
NM_014625.4
p.L156insFs
c.467dupT
2 papers
NM_014625.4
p.L156fs
c.466_467fs
1 paper
NM_014625.4
p.L156_P157insFs
c.468_469insA
1 paper
NM_014625.4
p.L156F
c.468G>C
4 papers
NM_014625.4
p.F154delFs
c.460delA
1 paper
NM_014625.4
p.F155V
c.463T>G
1 paper
NM_014625.4
p.P157T
c.469C>A
1 paper
NM_014625.4
p.F154S
c.461T>C
2 papers
NM_014625.4
p.L159L
c.477G>C
1 paper
NM_014625.4
p.D160Y
c.478G>T
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."