Varaico: Literature-Extracted Genetic Variants

NCF1

358 papers

RefSeq Summary

The protein encoded by this gene is a 47 kDa cytosolic subunit of neutrophil NADPH oxidase. This oxidase is a multicomponent enzyme that is activated to produce superoxide anion. Mutations in this gen...

Pfam Domains

PXaa 30–121UCSCPX domain

SH3_1aa 162–207UCSCSH3 domain

SH3_1aa 232–277UCSCSH3 domain

NCF1_PBR_AIRaa 291–340UCSCNeutrophil cytosol factor 1, PBR/AIR

p47_phox_Caa 358–390UCSCNADPH oxidase subunit p47Phox, C terminal domain

Gene Aliases

HGNC Name

neutrophil cytosolic factor 1

HGNC Alias Symbols

p47phox; NOXO2; NCF1A; SH3PXD1A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

68 papers

NM_000265.7

p.V25_Y26delFs

c.75_76delGT

Surrounding Variants

1 paper

NM_000265.7

p.V25M

c.73G>A

2 papers

NM_000265.7

p.V25insFs

c.73_74insC

1 paper

NM_000265.7

p.Y26H

c.76T>C

4 papers

NM_000265.7

p.Y26fs

c.76_77fs

13 papers

NM_000265.7

p.Y26fs

c.76_77fs

1 paper

NM_000265.7

p.Y26C

c.77A>G

1 paper

NM_000265.7

p.F28L

c.82T>C

1 paper

NM_000265.7

p.F28L

c.84C>A

1 paper

NM_000265.7

p.F28L

c.84C>G

2 papers

NM_000265.7

p.V30M

c.88G>A

1 paper

NM_000265.7

p.W32*

c.95G>A

1 paper

NM_000265.7

p.S36A

c.106T>G