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.R70S

c.210G>T

Surrounding Variants

1 paper

NM_000265.7

p.R70S

c.210G>C

1 paper

NM_000265.7

p.R70K

c.209G>A

1 paper

NM_000265.7

p.N69N

c.207C>T

1 paper

NM_000265.7

p.E68D

c.204G>C

1 paper

NM_000265.7

p.E68D

c.204G>T

3 papers

NM_000265.7

p.P73S

c.217C>T

1 paper

NM_000265.7

p.L75delFs

c.223delC

15 papers

NM_000265.7

p.L75_P76del2

c.223_227del6

1 paper

NM_000265.7

p.P76Q

c.227C>A

1 paper

NM_000265.7

p.P76L

c.227C>T

1 paper

NM_000265.7

p.A77G

c.230C>G

2 papers

NM_000265.7

p.A77Splc

c.229+1G>A