Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.T161A

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.T161A
c.481A>G
Surrounding Variants
1 paper
NM_014625.4
p.T161S
c.481A>T
1 paper
NM_014625.4
p.T161S
c.482C>G
14 papers
NM_014625.4
p.D160G
c.479A>G
1 paper
NM_014625.4
p.D160A
c.479A>C
1 paper
NM_014625.4
p.D160Y
c.478G>T
2 papers
NM_014625.4
p.L159L
c.477G>C
4 papers
NM_014625.4
p.Y162*
c.486C>G
3 papers
NM_014625.4
p.Y162_H163insFs
c.486_487insA
4 papers
NM_014625.4
p.Y162*
c.486C>A
1 paper
NM_014625.4
p.K164E
c.490A>G
1 paper
NM_014625.4
p.K164T
c.491A>C
1 paper
NM_014625.4
p.K164N
c.492G>T
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