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

1–12 of 340 variants

30 papers

NM_000433.4

p.R395W

c.1183C>T

28 papers

NM_000433.4

p.H389Q

c.1167C>G

28 papers

NM_000433.4

p.H389Q

c.1167C>A

23 papers

NM_000433.4

p.R102*

c.304C>T

14 papers

NM_000433.4

p.N419I

c.1256A>T

13 papers

NM_000433.4

p.A128V

c.383C>T

12 papers

NM_000433.4

p.R66*

c.196C>T

11 papers

NM_000433.4

p.G78E

c.233G>A

11 papers

NM_000433.4

p.K181R

c.542A>G

9 papers

NM_000433.4

p.R38Q

c.113G>A

9 papers

NM_000433.4

p.V204A

c.611T>C

8 papers

NM_000433.4

p.T279delFs

c.835_836delGT