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.T279M

c.836C>T

Surrounding Variants

1 paper

NM_000433.4

p.T279fs

c.835_836fs

1 paper

NM_000433.4

p.T279T

c.837G>A

8 papers

NM_000433.4

p.T279delFs

c.835_836delGT

3 papers

NM_000433.4

p.T279fs

c.835_836fs

1 paper

NM_000433.4

p.W277*

c.831G>A

1 paper

NM_000433.4

p.W277*

c.830G>A

1 paper

NM_000433.4

p.W277R

c.829T>C

1 paper

NM_000433.4

p.W277R

c.829T>A

1 paper

NM_000433.4

p.G273D

c.818G>A

2 papers

NM_000433.4

p.Q285H

c.855G>T

5 papers

NM_000433.4

p.Q285H

c.855G>C

1 paper

NM_000433.4

p.K271R

c.812A>G