Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E188V

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.E188V
c.563A>T
Surrounding Variants
3 papers
NM_014625.4
p.E188*
c.562G>T
1 paper
NM_014625.4
p.E188D
c.564G>T
1 paper
NM_014625.4
p.E188D
c.564G>C
2 papers
NM_014625.4
p.M187I
c.561G>T
2 papers
NM_014625.4
p.M187I
c.561G>C
2 papers
NM_014625.4
p.M187I
c.561G>A
2 papers
NM_014625.4
p.M187T
c.560T>C
1 paper
NM_014625.4
p.I186delFs
c.558delT
1 paper
NM_014625.4
p.I189I
c.567A>T
1 paper
NM_014625.4
p.M187V
c.559A>G
1 paper
NM_014625.4
p.D190insFs
c.568_569insT
1 paper
NM_014625.4
p.I186L
c.556A>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."