Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.L236_R238del0

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.L236_R238del0
c.708_713del6
Surrounding Variants
31 papers
NM_014625.4
p.R238S
c.714G>T
1 paper
NM_014625.4
p.R238fs
c.712_713fs
31 papers
NM_014625.4
p.R238S
c.714G>C
3 papers
NM_014625.4
p.L235_R238del0
c.705_713del9
1 paper
NM_014625.4
p.K239fs
c.715_716fs
1 paper
NM_014625.4
p.R238_K239insFs
c.714_715insG
2 papers
NM_014625.4
p.R238delFs
c.714delC
1 paper
NM_014625.4
p.R238del1
c.712_713delCCT
1 paper
NM_014625.4
p.S240C
c.718A>T
2 papers
NM_014625.4
p.E237*
c.709G>T
27 papers
NM_014625.4
p.E237Q
c.709G>C
1 paper
NM_014625.4
p.E237K
c.709G>A
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."