Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R71R

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
2 papers
NM_014625.4
p.R71R
c.213A>T
Surrounding Variants
10 papers
NM_014625.4
p.R71*
c.211C>T
1 paper
NM_014625.4
p.D68_E69del2
c.202_206del6
1 paper
NM_014625.4
p.S73F
c.218C>T
2 papers
NM_014625.4
p.E69*
c.205G>T
1 paper
NM_014625.4
p.E76V
c.227A>T
1 paper
NM_014625.4
p.D68_E75del8
c.202_224del24
1 paper
NM_014625.4
p.E79D
c.237G>T
1 paper
NM_014625.4
p.E79D
c.237G>C
1 paper
NM_014625.4
p.E79E
c.237G>A
1 paper
NM_014625.4
p.T63A
c.187A>G
1 paper
NM_014625.4
p.V81L
c.241G>T
9 papers
NM_014625.4
p.A61V
c.182C>T
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