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

7 papers

NM_000433.4

p.K161E

c.481A>G

Surrounding Variants

1 paper

NM_000433.4

p.K161delFs

c.482delT

7 papers

NM_000433.4

p.D160V

c.479A>T

1 paper

NM_000433.4

p.A162T

c.484G>A

1 paper

NM_000433.4

p.A162V

c.485C>T

1 paper

NM_000433.4

p.I159I

c.477C>T

1 paper

NM_000433.4

p.A162E

c.485C>A

2 papers

NM_000433.4

p.I159delFs

c.475delT

1 paper

NM_000433.4

p.M163T

c.488T>C

1 paper

NM_000433.4

p.V166I

c.496G>A

1 paper

NM_000433.4

p.W167C

c.501G>T

1 paper

NM_000433.4

p.W167C

c.501G>C

1 paper

NM_000433.4

p.M163_W167delFs

c.488_501del14