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.V179A

c.536T>C

Surrounding Variants

1 paper

NM_000433.4

p.K181E

c.541A>G

11 papers

NM_000433.4

p.K181R

c.542A>G

1 paper

NM_000433.4

p.V175_V176ins15

c.523_527ins45

1 paper

NM_000433.4

p.Y172_P174del3

c.514_521del9

6 papers

NM_000433.4

p.R184*

c.550C>T

3 papers

NM_000433.4

p.R184P

c.551G>C

2 papers

NM_000433.4

p.R184Q

c.551G>A

1 paper

NM_000433.4

p.P174_V175insT

c.520_524ins3

1 paper

NM_000433.4

p.R184fs

c.550_551fs

1 paper

NM_000433.4

p.E187_R188insA

c.559_563ins3

1 paper

NM_000433.4

p.E187K

c.559G>A

1 paper

NM_000433.4

p.L171L

c.511C>T