Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.S37I

NCF4

206 papers

RefSeq Summary

The protein encoded by this gene is a cytosolic regulatory component of the superoxide-producing phagocyte NADPH-oxidase, a multicomponent enzyme system important for host defense. This protein is pre...

Pfam Domains

PXaa 45–136UCSCPX domain
SH3_1aa 176–221UCSCSH3 domain
PB1aa 237–329UCSCPB1 domain

Gene Aliases

HGNC Name

neutrophil cytosolic factor 4

HGNC Alias Symbols

p40phox; SH3PXD4

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000631.5
p.S37I
c.110G>T
Surrounding Variants
1 paper
NM_000631.5
p.I26delFs
c.77delT
1 paper
NM_000631.5
p.N25insFs
c.73_74insC
1 paper
NM_000631.5
p.N25_I26delFs
c.75_76delCA
3 papers
NM_000631.5
p.A24T
c.70G>A
1 paper
NM_000631.5
p.S23S
c.69G>A
1 paper
NM_000631.5
p.S23delFs
c.67delT
1 paper
NM_000631.5
p.P17L
c.50C>T
1 paper
NM_000631.5
p.S11Splc
c.33-1G>A
2 papers
NM_000631.5
p.V40_V45del0
c.120_134del15
4 papers
NM_000631.5
p.F39_V40Splc
c.118-1G>A
2 papers
NM_000631.5
p.S11Splc
c.33-728T>C
1 paper
NM_000631.5
p.E44Q
c.130G>C
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