Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.I263L

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.I263L
c.787A>C
Surrounding Variants
1 paper
NM_014625.4
p.I263L
c.787A>T
2 papers
NM_014625.4
p.I263V
c.787A>G
2 papers
NM_014625.4
p.E264*
c.790G>T
8 papers
NM_014625.4
p.E264Q
c.790G>C
1 paper
NM_014625.4
p.E261K
c.781G>A
35 papers
NM_014625.4
p.V260E
c.779T>A
2 papers
NM_014625.4
p.V260M
c.778G>A
2 papers
NM_014625.4
p.I265Splc
c.794+5G>T
3 papers
NM_014625.4
p.G257E
c.770G>A
2 papers
NM_001297575.2
p.I187V
c.559A>G
NM_014625.4
p.I255V
c.763A>G
1 paper
NM_014625.4
p.C254*
c.762T>A
1 paper
NM_014625.4
p.C254F
c.761G>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."