Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.L83delFs

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.L83delFs
c.249delC
Surrounding Variants
1 paper
NM_014625.4
p.E85fs
c.253_254fs
1 paper
NM_014625.4
p.E85insFs
c.253dupG
1 paper
NM_014625.4
p.S86R
c.258C>G
3 papers
NM_014625.4
p.E87*
c.259G>T
1 paper
NM_014625.4
p.V81L
c.241G>T
2 papers
NM_014625.4
p.E87K
c.259G>A
1 paper
NM_014625.4
p.R88G
c.262C>G
1 paper
NM_014625.4
p.E79D
c.237G>T
1 paper
NM_014625.4
p.E79D
c.237G>C
1 paper
NM_014625.4
p.E79E
c.237G>A
3 papers
NM_014625.4
p.P89T
c.265C>A
1 paper
NM_014625.4
p.R88_P89delFs
c.264_265delGC
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