Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.S206I

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.S206I
c.617G>T
Surrounding Variants
1 paper
NM_014625.4
p.L207I
c.619C>A
3 papers
NM_014625.4
p.S205_L207delins
c.614_621delinsTT
1 paper
NM_014625.4
p.S205N
c.614G>A
11 papers
NM_014625.4
p.A208T
c.622G>A
1 paper
NM_014625.4
p.L204Q
c.611T>A
2 papers
NM_014625.4
p.L204L
c.610C>T
1 paper
NM_014625.4
p.H209D
c.625C>G
1 paper
NM_014625.4
p.H209insFs
c.625_626insG
1 paper
NM_014625.4
p.L203R
c.608T>G
2 papers
NM_014625.4
p.L203P
c.608T>C
1 paper
NM_014625.4
p.H209delFs
c.627delA
1 paper
NM_014625.4
p.S211A
c.631T>G
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