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.A97D

c.290C>A

Surrounding Variants

1 paper

NM_000433.4

p.E96del1

c.286_287delTTC

1 paper

NM_000433.4

p.A97P

c.289G>C

1 paper

NM_000433.4

p.E96K

c.286G>A

3 papers

NM_000433.4

p.Q100*

c.298C>T

1 paper

NM_000433.4

p.Q100E

c.298C>G

1 paper

NM_000433.4

p.Q100H

c.300G>T

1 paper

NM_000433.4

p.Q100H

c.300G>C

7 papers

NM_000433.4

p.D93E

c.279C>G

6 papers

NM_000433.4

p.D93E

c.279C>A

2 papers

NM_000433.4

p.D93V

c.278A>T

23 papers

NM_000433.4

p.R102*

c.304C>T

1 paper

NM_000433.4

p.R102L

c.305G>T