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

6 papers

NM_000397.4

p.Q374*

c.1120C>T

Surrounding Variants

3 papers

NM_000397.4

p.E375delFs

c.1123delG

1 paper

NM_000397.4

p.E375_F376delFs

c.1123_1126del4

2 papers

NM_000397.4

p.E375*

c.1123G>T

1 paper

NM_000397.4

p.D372N

c.1114G>A

1 paper

NM_000397.4

p.C371*

c.1113T>A

1 paper

NM_000397.4

p.Q377*

c.1129C>T

3 papers

NM_000397.4

p.D378G

c.1133A>G

1 paper

NM_000397.4

p.C369S

c.1106G>C

1 paper

NM_000397.4

p.C369S

c.1105T>A

7 papers

NM_000397.4

p.C369R

c.1105T>C

1 paper

NM_000397.4

p.A379V

c.1136C>T

1 paper

NM_000397.4

p.A368delFs

c.1104delT