Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.P45_S46insFs

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.P45_S46insFs
c.135_136insC
Surrounding Variants
2 papers
NM_014625.4
p.P45fs
c.133_134fs
1 paper
NM_014625.4
p.P45delFs
c.134delG
1 paper
NM_014625.4
p.S46P
c.136T>C
1 paper
NM_014625.4
p.S46W
c.137C>G
1 paper
NM_014625.4
p.P45A
c.133C>G
1 paper
NM_014625.4
p.P45insFs
c.133_134insG
1 paper
NM_014625.4
p.S46*
c.137C>A
1 paper
NM_014625.4
p.S46delFs
c.136delA
1 paper
NM_014625.4
p.S46S
c.138G>A
1 paper
NM_014625.4
p.E44E
c.132G>A
1 paper
NM_014625.4
p.E44A
c.131A>C
1 paper
NM_014625.4
p.G47G
c.141C>G
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