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.T45A

c.133A>G

Surrounding Variants

1 paper

NM_000265.7

p.E46K

c.136G>A

1 paper

NM_000265.7

p.R43P

c.128G>C

1 paper

NM_000265.7

p.R43C

c.127C>T

10 papers

NM_000265.7

p.R42Q

c.125G>A

8 papers

NM_000265.7

p.R42W

c.124C>T

1 paper

NM_000265.7

p.Y48Y

c.144C>T

1 paper

NM_000265.7

p.Y41D

c.121T>G

1 paper

NM_000265.7

p.V39_V40insG

c.115_119ins3

1 paper

NM_000265.7

p.H51P

c.152A>C

2 papers

NM_000265.7

p.H51Q

c.153T>A

1 paper

NM_000265.7

p.H51Q

c.153T>G

4 papers

NM_000265.7

p.H51_K52Splc

c.153+1G>A