Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E23delFs

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.E23delFs
c.68_69delCT
Surrounding Variants
1 paper
NM_014625.4
p.N24delFs
c.72delG
1 paper
NM_014625.4
p.K25R
c.74A>G
1 paper
NM_014625.4
p.N24Fs
c.70_72delinsAFs
1 paper
NM_014625.4
p.R26W
c.76A>T
1 paper
NM_014625.4
p.R26M
c.77G>T
1 paper
NM_014625.4
p.E23_K25delFs
c.68_75del8
2 papers
NM_014625.4
p.A27T
c.79G>A
53 papers
NM_014625.4
p.P20L
c.59C>T
1 paper
NM_014625.4
p.K28M
c.83A>T
5 papers
NM_014625.4
p.A29T
c.85G>A
1 paper
NM_014625.4
p.E23_K28delFs
c.67_83del17
2 papers
NM_014625.4
p.A29A
c.87C>G
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