Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.T221I

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.T221I
c.662C>T
Surrounding Variants
1 paper
NM_014625.4
p.T221S
c.662C>G
1 paper
NM_014625.4
p.T221S
c.661A>T
1 paper
NM_014625.4
p.T220delFs
c.659delG
4 papers
NM_014625.4
p.Q219*
c.655C>T
5 papers
NM_014625.4
p.R224C
c.670C>T
1 paper
NM_014625.4
p.V218G
c.653T>G
3 papers
NM_014625.4
p.R224H
c.671G>A
2 papers
NM_014625.4
p.F216Y
c.647T>A
9 papers
NM_014625.4
p.Q215*
c.643C>T
1 paper
NM_014625.4
p.Q215E
c.643C>G
2 papers
NM_014625.4
p.H228D
c.682C>G
4 papers
NM_014625.4
p.R229*
c.685C>T
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