Varaico: Literature-Extracted Genetic Variants

Gene:NCF4
Variant:p.M1V

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
3 papers
NM_000631.5
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_000631.5
p.M1K
c.2T>A
1 paper
NM_000631.5
p.M1T
c.2T>C
1 paper
NM_000631.5
p.R8W
c.22C>T
1 paper
NM_000631.5
p.R8R
c.24G>A
2 papers
NM_000631.5
p.S11Splc
c.32+2T>G
1 paper
NM_000631.5
p.S11Splc
c.32+1258T>C
1 paper
NM_000631.5
p.S11Splc
c.33-1243G>A
2 papers
NM_000631.5
p.S11Splc
c.33-728T>C
1 paper
NM_000631.5
p.S11Splc
c.33-1G>A
1 paper
NM_000631.5
p.P17L
c.50C>T
1 paper
NM_000631.5
p.S23delFs
c.67delT
1 paper
NM_000631.5
p.S23S
c.69G>A
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