Varaico: Literature-Extracted Genetic Variants

NCF2

348 papers

RefSeq Summary

This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which ...

Pfam Domains

TPR_8aa 37–69UCSCTetratricopeptide repeat

TPR_8aa 71–98UCSCTetratricopeptide repeat

SH3_1aa 246–291UCSCSH3 domain

PB1aa 351–429UCSCPB1 domain

SH3_1aa 463–508UCSCSH3 domain

Gene Aliases

HGNC Name

neutrophil cytosolic factor 2

HGNC Alias Symbols

p67phox; NOXA2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000433.4

p.Y74insFs

c.221_222ins5

Surrounding Variants

7 papers

NM_000433.4

p.R77*

c.229C>T

1 paper

NM_000433.4

p.F75_Q76del2

c.223_227del6

7 papers

NM_000433.4

p.R77Q

c.230G>A

1 paper

NM_000433.4

p.A71T

c.211G>A

11 papers

NM_000433.4

p.G78E

c.233G>A

1 paper

NM_000433.4

p.M79V

c.235A>G

1 paper

NM_000433.4

p.K68N

c.204G>C

2 papers

NM_000433.4

p.L80P

c.239T>C

1 paper

NM_000433.4

p.K68*

c.202A>T

1 paper

NM_000433.4

p.R66Q

c.197G>A

12 papers

NM_000433.4

p.R66*

c.196C>T

1 paper

NM_000433.4

p.R66insFs

c.196_197insA