Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.F137Y

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.F137Y
c.410T>A
Surrounding Variants
60 papers
NM_014625.4
p.R138*
c.412C>T
1 paper
NM_014625.4
p.I136I
c.408A>T
5 papers
NM_014625.4
p.R138P
c.413G>C
171 papers
NM_014625.4
p.R138Q
c.413G>A
3 papers
NM_014625.4
p.I136L
c.406A>T
3 papers
NM_014625.4
p.I136L
c.406A>C
1 paper
NM_014625.4
p.L139fs
c.415_416fs
4 papers
NM_014625.4
p.L139R
c.416T>G
1 paper
NM_014625.4
p.L139P
c.416T>C
1 paper
NM_014625.4
p.I135T
c.404T>C
1 paper
NM_014625.4
p.I135_I136insC
c.403_407ins3
1 paper
NM_014625.4
p.G140*
c.418G>T
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