Varaico: Literature-Extracted Genetic Variants

CYBB

709 papers

RefSeq Summary

Cytochrome b (-245) is composed of cytochrome b alpha (CYBA) and beta (CYBB) chain. It has been proposed as a primary component of the microbicidal oxidase system of phagocytes. CYBB deficiency is one...

Pfam Domains

Ferric_reductaa 56–220UCSCFerric reductase like transmembrane component

FAD_binding_8aa 292–395UCSCFAD-binding domain

NAD_binding_6aa 401–551UCSCFerric reductase NAD binding domain

Gene Aliases

HGNC Name

cytochrome b-245 beta chain

HGNC Previous Symbol

CGD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000397.4

p.R284S

c.852G>T

Surrounding Variants

1 paper

NM_000397.4

p.R284S

c.852G>C

2 papers

NM_000397.4

p.V286_W289delFs

c.857_867del11

1 paper

NM_000397.4

p.R284K

c.851G>A

1 paper

NM_000397.4

p.R284insFs

c.850_851ins4

1 paper

NM_000397.4

p.R284G

c.850A>G

1 paper

NM_000397.4

p.L285S

c.854T>C

1 paper

NM_000397.4

p.L285_V286delFs

c.855_856delGG

2 papers

NM_000397.4

p.V286fs

c.856_857fs

3 papers

NM_000397.4

p.C282*

c.846T>A

1 paper

NM_000397.4

p.R287Q

c.860G>A

1 paper

NM_000397.4

p.F288fs

c.862_863fs

1 paper

NM_000397.4

p.Y280*

c.840T>A