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

28 papers

NM_000433.4

p.H389Q

c.1167C>G

Surrounding Variants

28 papers

NM_000433.4

p.H389Q

c.1167C>A

1 paper

NM_000433.4

p.T390fs

c.1168_1169fs

1 paper

NM_000433.4

p.K391fs

c.1171_1172fs

1 paper

NM_000433.4

p.E388K

c.1162G>A

1 paper

NM_000433.4

p.L392V

c.1174C>G

4 papers

NM_000433.4

p.K391_L392delFs

c.1171_1175del5

4 papers

NM_000433.4

p.R386Q

c.1157G>A

1 paper

NM_000433.4

p.S393delFs

c.1177delT

1 paper

NM_000433.4

p.S393Splc

c.1178+1G>A

2 papers

NM_000433.4

p.D377_V379del0

c.1130_1135del6

3 papers

NM_000433.4

p.M378del1

c.1132_1133delCAT

1 paper

NM_000433.4

p.V375delFs

c.1123delC