Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.D302A

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.D302A
c.905A>C
Surrounding Variants
1 paper
NM_000631.5
p.D302insFs
c.904_905insC
1 paper
NM_000631.5
p.L305V
c.913C>G
1 paper
NM_000631.5
p.S299S
c.897G>A
3 papers
NM_000631.5
p.R308Q
c.923G>A
1 paper
NM_000631.5
p.L294L
c.880C>T
5 papers
NM_000631.5
p.G312C
c.934G>T
1 paper
NM_000631.5
p.P314insFs
c.941_942insG
3 papers
NM_000631.5
p.S315A
c.943T>G
3 papers
NM_000631.5
p.D289A
c.866A>C
1 paper
NM_000631.5
p.Q316P
c.947A>C
1 paper
NM_000631.5
p.F320F
c.960C>T
1 paper
NM_000631.5
p.T327M
c.980C>T
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