Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.P20L

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
53 papers
NM_014625.4
p.P20L
c.59C>T
Surrounding Variants
2 papers
NM_014625.4
p.R18S
c.54G>C
2 papers
NM_014625.4
p.R18T
c.53G>C
1 paper
NM_014625.4
p.R18K
c.53G>A
1 paper
NM_014625.4
p.R18W
c.52A>T
1 paper
NM_014625.4
p.R18G
c.52A>G
1 paper
NM_014625.4
p.G17delFs
c.51delG
2 papers
NM_014625.4
p.G16D
c.47G>A
1 paper
NM_014625.4
p.E23delFs
c.68_69delCT
1 paper
NM_014625.4
p.N24delFs
c.72delG
1 paper
NM_014625.4
p.R15Q
c.44G>A
1 paper
NM_014625.4
p.K25R
c.74A>G
1 paper
NM_014625.4
p.N24Fs
c.70_72delinsAFs
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