Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S48S

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.S48S
c.144C>T
Surrounding Variants
1 paper
NM_014625.4
p.S48insFs
c.142dupT
3 papers
NM_014625.4
p.S46_S48insFs
c.138_142dup5
1 paper
NM_014625.4
p.G49A
c.146G>C
1 paper
NM_014625.4
p.S48fs
c.142_143fs
1 paper
NM_014625.4
p.G47G
c.141C>G
1 paper
NM_014625.4
p.R50P
c.149G>C
1 paper
NM_014625.4
p.S46S
c.138G>A
1 paper
NM_014625.4
p.A51P
c.151G>C
1 paper
NM_014625.4
p.S46W
c.137C>G
1 paper
NM_014625.4
p.S46*
c.137C>A
1 paper
NM_014625.4
p.S46delFs
c.136delA
1 paper
NM_014625.4
p.S46P
c.136T>C
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