Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.Y53F

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.Y53F
c.158A>T
Surrounding Variants
1 paper
NM_000631.5
p.R57C
c.169C>T
1 paper
NM_000631.5
p.R57H
c.170G>A
3 papers
NM_000631.5
p.R58C
c.172C>T
1 paper
NM_000631.5
p.Y59ins5
c.175_176ins15
1 paper
NM_000631.5
p.K48_S51insFs
c.143_152dup10
1 paper
NM_000631.5
p.R58_Y59insFs
c.174_175insT
1 paper
NM_000631.5
p.Y59*
c.177C>G
2 papers
NM_000631.5
p.R60C
c.178C>T
1 paper
NM_000631.5
p.R60H
c.179G>A
3 papers
NM_000631.5
p.Q61L
c.182A>T
1 paper
NM_000631.5
p.V45L
c.133G>T
1 paper
NM_000631.5
p.F62I
c.184T>A
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