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

1 paper

NM_000265.7

p.A200Fs

c.599delinsGTFs

Surrounding Variants

2 papers

NM_000265.7

p.R202*

c.604C>T

3 papers

NM_000265.7

p.W204*

c.611G>A

3 papers

NM_000265.7

p.W204*

c.612G>A

1 paper

NM_000265.7

p.P206L

c.617C>T

44 papers

NM_000265.7

p.W193*

c.579G>A

32 papers

NM_000265.7

p.W193*

c.578G>A

1 paper

NM_000265.7

p.A207A

c.621G>A

6 papers

NM_000265.7

p.W193R

c.577T>A

7 papers

NM_000265.7

p.W193R

c.577T>C

1 paper

NM_000265.7

p.P216A

c.646C>G

1 paper

NM_000265.7

p.D217A

c.650A>C

1 paper

NM_000265.7

p.E218A

c.653A>C