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

2 papers

NM_000397.4

p.V238delFs

c.713delT

Surrounding Variants

2 papers

NM_000397.4

p.V238fs

c.712_713fs

2 papers

NM_000397.4

p.V238_H239insFs

c.714_715insTA

2 papers

NM_000397.4

p.H239fs

c.715_716fs

1 paper

NM_000397.4

p.A237insFs

c.710dupC

1 paper

NM_000397.4

p.A237delFs

c.710delC

1 paper

NM_000397.4

p.L236delFs

c.706_707delTT

2 papers

NM_000397.4

p.I241_T242delFs

c.722_726del5

1 paper

NM_000397.4

p.I241fs

c.721_722fs

1 paper

NM_000397.4

p.I241fs

c.721_722fs

5 papers

NM_000397.4

p.T242delFs

c.724_725delAC

2 papers

NM_000397.4

p.T242fs

c.724_725fs

2 papers

NM_000397.4

p.E234ins7

c.700_701ins21