Varaico: Literature-Extracted Genetic Variants

Gene:NPHS2
Variant:p.L104F

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.L104F
c.310C>T
Surrounding Variants
2 papers
NM_014625.4
p.L104_L105insG
c.310_314ins3
4 papers
NM_014625.4
p.E102K
c.304G>A
1 paper
NM_014625.4
p.C101S
c.302G>C
1 paper
NM_014625.4
p.C101S
c.301T>A
2 papers
NM_014625.4
p.L107P
c.320T>C
1 paper
NM_014625.4
p.A100V
c.299C>T
2 papers
NM_014625.4
p.I108V
c.322A>G
1 paper
NM_014625.4
p.G99E
c.296G>A
1 paper
NM_014625.4
p.S109P
c.325T>C
1 paper
NM_014625.4
p.S109T
c.325T>A
1 paper
NM_014625.4
p.L98fs
c.292_293fs
1 paper
NM_014625.4
p.L110P
c.329T>C
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