Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.R130W

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
3 papers
NM_000631.5
p.R130W
c.388C>T
Surrounding Variants
2 papers
NM_000631.5
p.R130Q
c.389G>A
1 paper
NM_000631.5
p.E127K
c.379G>A
1 paper
NM_000631.5
p.P120P
c.360G>A
1 paper
NM_000631.5
p.P120L
c.359C>T
1 paper
NM_000631.5
p.S140*
c.419C>G
2 papers
NM_000631.5
p.P120_Y134del15
c.358_401del45
1 paper
NM_000631.5
p.S118R
c.354C>A
1 paper
NM_000631.5
p.S118R
c.354C>G
1 paper
NM_000631.5
p.S118R
c.352A>C
2 papers
NM_000631.5
p.P144T
c.430C>A
1 paper
NM_000631.5
p.A146T
c.436G>A
1 paper
NM_000631.5
p.R151C
c.451C>T
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