Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.M338I

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.M338I
c.1014G>T
Surrounding Variants
1 paper
NM_000631.5
p.M338I
c.1014G>A
1 paper
NM_000631.5
p.M338I
c.1014G>C
1 paper
NM_000631.5
p.T337T
c.1011G>A
1 paper
NM_000631.5
p.N336delFs
c.1006delA
1 paper
NM_000631.5
p.T327T
c.981G>A
1 paper
NM_000631.5
p.T327M
c.980C>T
1 paper
NM_000631.5
p.F320F
c.960C>T
1 paper
NM_000631.5
p.Q316P
c.947A>C
3 papers
NM_000631.5
p.S315A
c.943T>G
1 paper
NM_000631.5
p.P314insFs
c.941_942insG
5 papers
NM_000631.5
p.G312C
c.934G>T
3 papers
NM_000631.5
p.R308Q
c.923G>A
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