Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.E71A

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.E71A
c.212A>C
Surrounding Variants
8 papers
NM_000631.5
p.E71G
c.212A>G
1 paper
NM_000631.5
p.E71K
c.211G>A
1 paper
NM_000631.5
p.E70A
c.209A>C
1 paper
NM_000631.5
p.P75delFs
c.223delC
1 paper
NM_000631.5
p.P75_D76del2
c.223_227del6
2 papers
NM_000631.5
p.Q66*
c.196C>T
1 paper
NM_000631.5
p.S77N
c.230G>A
1 paper
NM_000631.5
p.F62I
c.184T>A
1 paper
NM_000631.5
p.F62delFs
c.185_186delTC
3 papers
NM_000631.5
p.Q61L
c.182A>T
12 papers
NM_000631.5
p.A81V
c.242C>T
1 paper
NM_000631.5
p.R60H
c.179G>A
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