Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G140fs

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
11 papers
NM_014625.4
p.G140fs
c.418_419fs
Surrounding Variants
1 paper
NM_014625.4
p.G140*
c.418G>T
1 paper
NM_014625.4
p.G140R
c.418G>A
3 papers
NM_014625.4
p.G140E
c.419G>A
1 paper
NM_014625.4
p.R138_G140delFs
c.414_418del5
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.G140fs
c.418_419fs
31 papers
NM_014625.4
p.G140delFs
c.419delC
1 paper
NM_014625.4
p.L139fs
c.415_416fs
2 papers
NM_014625.4
p.H141Y
c.421C>T
5 papers
NM_014625.4
p.R138P
c.413G>C
171 papers
NM_014625.4
p.R138Q
c.413G>A
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