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.S393Splc

c.1179-4C>G

Surrounding Variants

4 papers

NM_000433.4

p.S393Splc

c.1179-2A>T

1 paper

NM_000433.4

p.S393Splc

c.1179-1G>C

4 papers

NM_000433.4

p.Y394D

c.1180T>G

31 papers

NM_000433.4

p.R395W

c.1183C>T

NM_001190789.2

p.R314W

c.940C>T

4 papers

NM_000433.4

p.R395Q

c.1184G>A

1 paper

NM_000433.4

p.S399C

c.1195A>T

1 paper

NM_000433.4

p.S399_N400insAG

c.1195_1199ins6

1 paper

NM_000433.4

p.E401K

c.1201G>A

1 paper

NM_000433.4

p.P396_N400del0

c.1188_1199del12

1 paper

NM_000433.4

p.D408fs

c.1222_1223fs

1 paper

NM_000433.4

p.D408delFs

c.1223delT

2 papers

NM_000433.4

p.K411*

c.1231A>T