Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.V180M

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
52 papers
NM_014625.4
p.V180M
c.538G>A
Surrounding Variants
1 paper
NM_014625.4
p.I179insFs
c.535_536ins7
7 papers
NM_014625.4
p.E178_I179Splc
c.535-1G>T
1 paper
NM_014625.4
p.E178_I179Splc
c.535-1G>C
2 papers
NM_014625.4
p.E178_I179Splc
c.535-1G>A
1 paper
NM_014625.4
p.T181I
c.542C>T
1 paper
NM_014625.4
p.E178_I179Splc
c.535-2A>G
3 papers
NM_014625.4
p.D183Y
c.547G>T
1 paper
NM_014625.4
p.M184delFs
c.550delT
1 paper
NM_014625.4
p.I186L
c.556A>T
1 paper
NM_014625.4
p.I186L
c.556A>C
8 papers
NM_014625.4
p.F185delFs
c.555delA
1 paper
NM_014625.4
p.M187V
c.559A>G
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