Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.K289E

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.K289E
c.865A>G
Surrounding Variants
3 papers
NM_014625.4
p.K289*
c.865A>T
42 papers
NM_014625.4
p.V290M
c.868G>A
12 papers
NM_014625.4
p.A288T
c.862G>A
1 paper
NM_014625.4
p.V290A
c.869T>C
1 paper
NM_014625.4
p.Q287H
c.861A>T
1 paper
NM_014625.4
p.Q287H
c.861A>C
6 papers
NM_014625.4
p.Q287R
c.860A>G
43 papers
NM_014625.4
p.R291W
c.871C>T
1 paper
NM_014625.4
p.R286delFs
c.857_858delTC
6 papers
NM_014625.4
p.R291Q
c.872G>A
1 paper
NM_014625.4
p.R286fs
c.856_857fs
1 paper
NM_014625.4
p.R286T
c.857G>C
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