Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G151Splc

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.G151Splc
c.451+23C>T
Surrounding Variants
6 papers
NM_014625.4
p.G151Splc
c.451+3A>T
4 papers
NM_014625.4
p.G151Splc
c.451+2T>A
1 paper
NM_014625.4
p.G151Splc
c.451+1G>C
2 papers
NM_014625.4
p.P150S
c.448C>T
1 paper
NM_014625.4
p.G149V
c.446G>T
1 paper
NM_014625.4
p.G149C
c.445G>T
1 paper
NM_014625.4
p.K148E
c.442A>G
1 paper
NM_014625.4
p.G151Splc
c.451+58A>T
1 paper
NM_014625.4
p.R146fs
c.436_437fs
1 paper
NM_014625.4
p.R146delFs
c.436delT
1 paper
NM_014625.4
p.G145insFs
c.434_435dupGA
3 papers
NM_014625.4
p.L142P
c.425T>C
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