Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.R291_M292Splc

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
9 papers
NM_014625.4
p.R291_M292Splc
c.873+7A>G
Surrounding Variants
1 paper
NM_014625.4
p.R291_M292Splc
c.873+5G>A
1 paper
NM_014625.4
p.R291_M292Splc
c.873+10C>T
1 paper
NM_014625.4
p.R291_M292Splc
c.873+11C>T
4 papers
NM_014625.4
p.R291_M292Splc
c.873+2T>A
1 paper
NM_014625.4
p.R291_M292Splc
c.873+1G>T
2 papers
NM_014625.4
p.R291_M292Splc
c.873+1G>A
6 papers
NM_014625.4
p.R291Q
c.872G>A
43 papers
NM_014625.4
p.R291W
c.871C>T
1 paper
NM_014625.4
p.V290A
c.869T>C
42 papers
NM_014625.4
p.V290M
c.868G>A
3 papers
NM_014625.4
p.K289*
c.865A>T
1 paper
NM_014625.4
p.K289E
c.865A>G
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