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.E234*

c.700G>T

Surrounding Variants

2 papers

NM_000397.4

p.E234ins7

c.700_701ins21

1 paper

NM_000397.4

p.A233insFs

c.699dupA

3 papers

NM_000397.4

p.S235delFs

c.703_704delAG

1 paper

NM_000397.4

p.L236delFs

c.706_707delTT

15 papers

NM_000397.4

p.Q231P

c.692A>C

4 papers

NM_000397.4

p.Q231*

c.691C>T

1 paper

NM_000397.4

p.A237insFs

c.710dupC

1 paper

NM_000397.4

p.A237delFs

c.710delC

2 papers

NM_000397.4

p.V238delFs

c.713delT

2 papers

NM_000397.4

p.V238fs

c.712_713fs

4 papers

NM_000397.4

p.R229H

c.686G>A

2 papers

NM_000397.4

p.V238_H239insFs

c.714_715insTA