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.S207A

c.619T>G

Surrounding Variants

1 paper

NM_000433.4

p.S207Y

c.620C>A

1 paper

NM_000433.4

p.A206P

c.616G>C

1 paper

NM_000433.4

p.V208A

c.623T>C

1 paper

NM_000433.4

p.V205A

c.614T>C

1 paper

NM_000433.4

p.V205M

c.613G>A

1 paper

NM_000433.4

p.V209A

c.626T>C

9 papers

NM_000433.4

p.V204A

c.611T>C

1 paper

NM_000433.4

p.V204L

c.610G>C

1 paper

NM_000433.4

p.V204I

c.610G>A

1 paper

NM_000433.4

p.D210A

c.629A>C

1 paper

NM_000433.4

p.D212E

c.636C>A

1 paper

NM_000433.4

p.P219A

c.655C>G