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.K195E

c.583A>G

Surrounding Variants

1 paper

NM_000433.4

p.K196_D197insA

c.586_590ins3

4 papers

NM_000433.4

p.L193L

c.579G>A

1 paper

NM_000433.4

p.K196del1

c.586_588delCTT

2 papers

NM_000433.4

p.R184_Q192delFs

c.552_574del23

1 paper

NM_000433.4

p.D197A

c.590A>C

1 paper

NM_000433.4

p.Q192ins2

c.574_575ins6

7 papers

NM_000433.4

p.Q192*

c.574C>T

1 paper

NM_000433.4

p.Y198F

c.593A>T

1 paper

NM_000433.4

p.L199V

c.595C>G

1 paper

NM_000433.4

p.V190A

c.569T>C

1 paper

NM_000433.4

p.V190M

c.568G>A

1 paper

NM_000433.4

p.G200A

c.599G>C