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

58 papers

NM_000265.7

p.R90H

c.269G>A

Surrounding Variants

1 paper

NM_000265.7

p.R90P

c.269G>C

4 papers

NM_000265.7

p.R90L

c.269G>T

1 paper

NM_000265.7

p.R90G

c.268C>G

2 papers

NM_000265.7

p.R90C

c.268C>T

1 paper

NM_000265.7

p.Q91K

c.271C>A

4 papers

NM_000265.7

p.Q91*

c.271C>T

1 paper

NM_000265.7

p.E88E

c.264G>A

1 paper

NM_000265.7

p.A87A

c.261C>A

1 paper

NM_000265.7

p.A87A

c.261C>G

2 papers

NM_000265.7

p.E96del1

c.286_287delGAG

1 paper

NM_000265.7

p.Q84Q

c.252G>A

1 paper

NM_000265.7

p.Q84H

c.252G>T