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.D124Y

c.370G>T

Surrounding Variants

1 paper

NM_000265.7

p.D123G

c.368A>G

1 paper

NM_000265.7

p.P128L

c.383C>T

1 paper

NM_000265.7

p.T129P

c.385A>C

1 paper

NM_000265.7

p.F118Fs

c.354delinsAAFs

1 paper

NM_000265.7

p.F118delins

c.353_354delinsAA

1 paper

NM_000265.7

p.F118delFs

c.353_354delTC

2 papers

NM_000265.7

p.L115L

c.345C>T

2 papers

NM_000265.7

p.H113Q

c.339C>A

1 paper

NM_000265.7

p.H113H

c.339C>T

2 papers

NM_000265.7

p.P112S

c.334C>T

3 papers

NM_000265.7

p.C111*

c.333T>A

1 paper

NM_000265.7

p.C111_H113del0

c.331_339del9