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

3 papers

NM_000397.4

p.L365P

c.1094T>C

Surrounding Variants

3 papers

NM_000397.4

p.L365delFs

c.1095delG

2 papers

NM_000397.4

p.G364G

c.1092G>A

19 papers

NM_000397.4

p.G364R

c.1090G>A

19 papers

NM_000397.4

p.G364R

c.1090G>C

3 papers

NM_000397.4

p.A368P

c.1102G>C

1 paper

NM_000397.4

p.A368S

c.1102G>T

3 papers

NM_000397.4

p.T362R

c.1085C>G

3 papers

NM_000397.4

p.T362I

c.1085C>T

1 paper

NM_000397.4

p.A368delFs

c.1104delT

2 papers

NM_000397.4

p.W361*

c.1083G>A

1 paper

NM_000397.4

p.W361C

c.1083G>C

1 paper

NM_000397.4

p.W361C

c.1083G>T