Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S95F

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.S95F
c.284C>T
Surrounding Variants
2 papers
NM_014625.4
p.S96F
c.287C>T
17 papers
NM_014625.4
p.S96S
c.288C>T
3 papers
NM_014625.4
p.G97S
c.289G>A
1 paper
NM_014625.4
p.G97delFs
c.289delC
1 paper
NM_014625.4
p.G92G
c.276T>A
20 papers
NM_014625.4
p.G92C
c.274G>T
1 paper
NM_014625.4
p.G92Splc
c.275-1G>C
1 paper
NM_014625.4
p.G92Splc
c.275-1G>A
1 paper
NM_014625.4
p.L98fs
c.292_293fs
4 papers
NM_014625.4
p.G92Splc
c.275-2A>C
1 paper
NM_014625.4
p.G99E
c.296G>A
1 paper
NM_014625.4
p.A100V
c.299C>T
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