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

2 papers

NM_000433.4

p.W137R

c.409T>A

Surrounding Variants

2 papers

NM_000433.4

p.W137R

c.409T>C

1 paper

NM_000433.4

p.W137*

c.410G>A

1 paper

NM_000433.4

p.W137*

c.411G>A

6 papers

NM_000433.4

p.E136G

c.407A>G

1 paper

NM_000433.4

p.E135_E136ins1

c.405_406insCTT

1 paper

NM_000433.4

p.E135ins1

c.403_404insATC

2 papers

NM_000433.4

p.K134fs

c.400_401fs

1 paper

NM_000433.4

p.K133insFs

c.398_399dupAG

1 paper

NM_000433.4

p.K133_K134insFs

c.399_400insAG

2 papers

NM_000433.4

p.A140G

c.419C>G

3 papers

NM_000433.4

p.A140D

c.419C>A

1 paper

NM_000433.4

p.L144I

c.430T>A