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

3 papers

NM_000433.4

p.M378del1

c.1132_1133delCAT

Surrounding Variants

2 papers

NM_000433.4

p.D377_V379del0

c.1130_1135del6

1 paper

NM_000433.4

p.V375delFs

c.1123delC

3 papers

NM_000433.4

p.Q374L

c.1121A>T

1 paper

NM_000433.4

p.Q374*

c.1120C>T

1 paper

NM_000433.4

p.S373R

c.1119C>G

1 paper

NM_000433.4

p.S373R

c.1119C>A

1 paper

NM_000433.4

p.S373R

c.1117A>C

4 papers

NM_000433.4

p.R386Q

c.1157G>A

1 paper

NM_000433.4

p.E388K

c.1162G>A

1 paper

NM_000433.4

p.G369R

c.1105G>C

1 paper

NM_000433.4

p.G369R

c.1105G>A

28 papers

NM_000433.4

p.H389Q

c.1167C>G