Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.G34G

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.G34G
c.102A>T
Surrounding Variants
6 papers
NM_014625.4
p.G34G
c.102A>G
4 papers
NM_014625.4
p.G34E
c.101G>A
1 paper
NM_014625.4
p.G35V
c.104G>T
1 paper
NM_014625.4
p.G35D
c.104G>A
6 papers
NM_014625.4
p.G35insFs
c.104dupG
1 paper
NM_014625.4
p.G33insFs
c.98_99insG
1 paper
NM_014625.4
p.G35G
c.105C>A
1 paper
NM_014625.4
p.G33A
c.98G>C
1 paper
NM_014625.4
p.R36G
c.106C>G
2 papers
NM_014625.4
p.R36fs
c.106_107fs
1 paper
NM_014625.4
p.S32C
c.94A>T
1 paper
NM_014625.4
p.R31S
c.93G>C
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