Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E178K

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.E178K
c.532G>A
Surrounding Variants
1 paper
NM_014625.4
p.H177Fs
c.531delinsGTGFs
3 papers
NM_014625.4
p.E178_I179Splc
c.534+1G>T
1 paper
NM_014625.4
p.E178_I179Splc
c.534+2T>C
1 paper
NM_014625.4
p.P175Fs
c.524delinsCGTFs
1 paper
NM_014625.4
p.P175L
c.524C>T
1 paper
NM_014625.4
p.P175Fs
c.524delinsTGTFs
1 paper
NM_014625.4
p.P175R
c.524C>G
1 paper
NM_014625.4
p.I174_P175delins
c.522_524delinsTGT
1 paper
NM_014625.4
p.I174_P175delins
c.522_524delinsCGT
5 papers
NM_014625.4
p.P175S
c.523C>T
1 paper
NM_014625.4
p.E173D
c.519G>T
1 paper
NM_014625.4
p.E173D
c.519G>C
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