Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.E130K

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
4 papers
NM_014625.4
p.E130K
c.388G>A
Surrounding Variants
7 papers
NM_014625.4
p.Q129*
c.385C>T
2 papers
NM_014625.4
p.Y131Y
c.393T>C
1 paper
NM_014625.4
p.E132Q
c.394G>C
1 paper
NM_014625.4
p.V128fs
c.382_383fs
1 paper
NM_014625.4
p.E132V
c.395A>T
1 paper
NM_014625.4
p.E132G
c.395A>G
2 papers
NM_014625.4
p.V127F
c.379G>T
1 paper
NM_014625.4
p.V127L
c.379G>C
2 papers
NM_014625.4
p.V127I
c.379G>A
1 paper
NM_014625.4
p.K126_V127Splc
c.379-1G>C
1 paper
NM_014625.4
p.R133delFs
c.397delT
1 paper
NM_014625.4
p.I135_I136insC
c.403_407ins3
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