Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G273W

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.G273W
c.817G>T
Surrounding Variants
2 papers
NM_014625.4
p.P271L
c.812C>T
1 paper
NM_014625.4
p.L274Fs
c.820_821delinsCFs
2 papers
NM_014625.4
p.L270F
c.810G>T
2 papers
NM_014625.4
p.L270F
c.810G>C
2 papers
NM_014625.4
p.L270*
c.809T>A
1 paper
NM_014625.4
p.Q275insFs
c.824dupA
1 paper
NM_014625.4
p.R269S
c.807G>T
1 paper
NM_014625.4
p.R269S
c.807G>C
2 papers
NM_014625.4
p.H276L
c.827A>T
5 papers
NM_014625.4
p.V268G
c.803T>G
2 papers
NM_014625.4
p.V268L
c.802G>T
2 papers
NM_014625.4
p.V268L
c.802G>C
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