Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.D166E

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.D166E
c.498C>G
Surrounding Variants
1 paper
NM_014625.4
p.D166E
c.498C>A
3 papers
NM_014625.4
p.L167P
c.500T>C
1 paper
NM_014625.4
p.D166N
c.496G>A
1 paper
NM_014625.4
p.V165V
c.495T>C
1 paper
NM_014625.4
p.V165G
c.494T>G
1 paper
NM_014625.4
p.K164_V165del1
c.491_493delCCT
19 papers
NM_014625.4
p.R168C
c.502C>T
8 papers
NM_014625.4
p.R168S
c.502C>A
45 papers
NM_014625.4
p.R168H
c.503G>A
1 paper
NM_014625.4
p.K164N
c.492G>T
1 paper
NM_014625.4
p.K164N
c.492G>C
2 papers
NM_014625.4
p.L169F
c.505C>T
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