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.K256insFs

c.767_768dupAA

Surrounding Variants

1 paper

NM_000433.4

p.E257fs

c.769_770fs

2 papers

NM_000433.4

p.Q260*

c.778C>T

1 paper

NM_000433.4

p.G250E

c.749G>A

1 paper

NM_000433.4

p.V267fs

c.799_800fs

1 paper

NM_000433.4

p.R246H

c.737G>A

1 paper

NM_000433.4

p.V267fs

c.799_800fs

2 papers

NM_000433.4

p.V267delFs

c.799_800delAC

1 paper

NM_000433.4

p.R246C

c.736C>T

1 paper

NM_000433.4

p.A244A

c.732T>G

1 paper

NM_000433.4

p.V269V

c.807C>A

2 papers

NM_000433.4

p.E243fs

c.727_728fs

2 papers

NM_000433.4

p.E243delFs

c.728delT