Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.L203P

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
2 papers
NM_014625.4
p.L203P
c.608T>C
Surrounding Variants
1 paper
NM_014625.4
p.L203R
c.608T>G
2 papers
NM_014625.4
p.L204L
c.610C>T
1 paper
NM_014625.4
p.L204Q
c.611T>A
1 paper
NM_014625.4
p.S205N
c.614G>A
1 paper
NM_014625.4
p.S201Y
c.602C>A
1 paper
NM_014625.4
p.S206I
c.617G>T
1 paper
NM_014625.4
p.A200V
c.599C>T
3 papers
NM_014625.4
p.N199insFs
c.596dupA
1 paper
NM_014625.4
p.N199K
c.597T>G
1 paper
NM_014625.4
p.N199K
c.597T>A
1 paper
NM_014625.4
p.L207I
c.619C>A
3 papers
NM_014625.4
p.S205_L207delins
c.614_621delinsTT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."