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.E122G

c.365A>G

Surrounding Variants

4 papers

NM_000433.4

p.E122_V123Splc

c.366+1G>C

5 papers

NM_000433.4

p.E122_V123Splc

c.366+1G>A

1 paper

NM_000433.4

p.L118Fs

c.354delinsAAFs

1 paper

NM_000433.4

p.L118delins

c.353_354delinsAA

1 paper

NM_000433.4

p.F116S

c.347T>C

1 paper

NM_000433.4

p.Q115R

c.344A>G

1 paper

NM_000433.4

p.G113R

c.337G>C

1 paper

NM_000433.4

p.G113R

c.337G>A

1 paper

NM_000433.4

p.Y109C

c.326A>G

3 papers

NM_000433.4

p.D108V

c.323A>T

1 paper

NM_000433.4

p.D108G

c.323A>G

1 paper

NM_000433.4

p.I107L

c.319A>T