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.E174Q

c.520G>C

Surrounding Variants

1 paper

NM_000265.7

p.E174_M175insT

c.520_524ins3

1 paper

NM_000265.7

p.M175_A176ins15

c.523_527ins45

2 papers

NM_000265.7

p.D181delFs

c.541delG

2 papers

NM_000265.7

p.E168delFs

c.502delG

1 paper

NM_000265.7

p.Y167S

c.500A>C

3 papers

NM_000265.7

p.N166D

c.496A>G

1 paper

NM_000265.7

p.V182M

c.544G>A

1 paper

NM_000265.7

p.A165delFs

c.493delG

1 paper

NM_000265.7

p.E184_G192delFs

c.552_574del23

1 paper

NM_000265.7

p.R162C

c.484C>T

2 papers

NM_000265.7

p.V186V

c.558A>G

1 paper

NM_000265.7

p.Y161delFs

c.482delA