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.L101P

c.302T>C

Surrounding Variants

2 papers

NM_000265.7

p.T100M

c.299C>T

1 paper

NM_000265.7

p.S99R

c.295A>C

9 papers

NM_000265.7

p.S99G

c.295A>G

5 papers

NM_000265.7

p.C98G

c.292T>G

1 paper

NM_000265.7

p.E96D

c.288G>T

1 paper

NM_000265.7

p.E96_Y97del1

c.287_289delAGT

2 papers

NM_000265.7

p.E96del1

c.286_287delGAG

1 paper

NM_000265.7

p.R110C

c.328C>T

1 paper

NM_000265.7

p.C111_H113del0

c.331_339del9

1 paper

NM_000265.7

p.Q91K

c.271C>A

4 papers

NM_000265.7

p.Q91*

c.271C>T

3 papers

NM_000265.7

p.C111*

c.333T>A