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

1–12 of 218 variants

68 papers

NM_000265.7

p.V25_Y26delFs

c.75_76delGT

58 papers

NM_000265.7

p.R90H

c.269G>A

44 papers

NM_000265.7

p.W193*

c.579G>A

32 papers

NM_000265.7

p.W193*

c.578G>A

15 papers

NM_000265.7

p.L75_P76del2

c.223_227del6

13 papers

NM_000265.7

p.Y26fs

c.76_77fs

13 papers

NM_000265.7

p.G192S

c.574G>A

10 papers

NM_000265.7

p.R42Q

c.125G>A

10 papers

NM_000265.7

p.G83R

c.247G>A

10 papers

NM_000265.7

p.G83R

c.247G>C

9 papers

NM_000265.7

p.S99G

c.295A>G

8 papers

NM_000265.7

p.R42W

c.124C>T