Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S9C

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.S9C
c.26C>G
Surrounding Variants
1 paper
NM_014625.4
p.S9insFs
c.27dupC
1 paper
NM_014625.4
p.R10insFs
c.29_30insA
2 papers
NM_014625.4
p.R10T
c.29G>C
1 paper
NM_014625.4
p.E11Q
c.31G>C
1 paper
NM_014625.4
p.E11K
c.31G>A
2 papers
NM_014625.4
p.S7S
c.21C>T
1 paper
NM_014625.4
p.R10delFs
c.30delC
1 paper
NM_014625.4
p.E11E
c.33G>A
1 paper
NM_014625.4
p.R13G
c.37C>G
1 paper
NM_014625.4
p.S12_R13insFs
c.36_37insC
1 paper
NM_014625.4
p.S12delFs
c.35delG
1 paper
NM_014625.4
p.A5G
c.14C>G
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