Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.A111T

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.A111T
c.331G>A
Surrounding Variants
1 paper
NM_000631.5
p.Y112H
c.334T>C
1 paper
NM_000631.5
p.A108V
c.323C>T
1 paper
NM_000631.5
p.K114_S115Splc
c.342+1G>T
13 papers
NM_000631.5
p.R105Q
c.314G>A
4 papers
NM_000631.5
p.M104I
c.312G>C
1 paper
NM_000631.5
p.Y94C
c.281A>G
1 paper
NM_000631.5
p.V93V
c.279C>G
1 paper
NM_000631.5
p.V93F
c.277G>T
1 paper
NM_000631.5
p.K114_S115Splc
c.342+202C>T
1 paper
NM_000631.5
p.K114_S115Splc
c.342+342T>C
1 paper
NM_000631.5
p.P90A
c.268C>G
1 paper
NM_000631.5
p.P90S
c.268C>T
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