Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.D244H

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.D244H
c.730G>C
Surrounding Variants
1 paper
NM_014625.4
p.Q243delFs
c.728_729delTT
1 paper
NM_014625.4
p.D244E
c.732T>G
1 paper
NM_014625.4
p.D244D
c.732T>C
1 paper
NM_014625.4
p.D244E
c.732T>A
22 papers
NM_014625.4
p.A242V
c.725C>T
1 paper
NM_014625.4
p.K246_V247Splc
c.738+1G>A
3 papers
NM_014625.4
p.K246_V247Splc
c.738+2T>C
1 paper
NM_014625.4
p.S240C
c.718A>T
1 paper
NM_014625.4
p.R238del1
c.712_713delCCT
1 paper
NM_014625.4
p.K239fs
c.715_716fs
1 paper
NM_014625.4
p.R238_K239insFs
c.714_715insG
2 papers
NM_014625.4
p.R238delFs
c.714delC
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