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.I39_C40insG

c.115_119ins3

Surrounding Variants

9 papers

NM_000433.4

p.R38Q

c.113G>A

1 paper

NM_000433.4

p.P35P

c.105C>A

1 paper

NM_000433.4

p.N42S

c.125A>G

1 paper

NM_000433.4

p.P35L

c.104C>T

1 paper

NM_000433.4

p.G44C

c.130G>T

5 papers

NM_000433.4

p.G44R

c.130G>C

4 papers

NM_000433.4

p.M46R

c.137T>G

1 paper

NM_000433.4

p.A31A

c.93C>T

1 paper

NM_000433.4

p.A31V

c.92C>T

1 paper

NM_000433.4

p.S30G

c.88A>G

1 paper

NM_000433.4

p.A28G

c.83C>G

1 paper

NM_000433.4

p.L26delFs

c.77delA