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

1–12 of 953 variants

43 papers

NM_000397.4

p.R226*

c.676C>T

33 papers

NM_000397.4

p.R157*

c.469C>T

24 papers

NM_000397.4

p.E309K

c.925G>A

21 papers

NM_000397.4

p.R130*

c.388C>T

20 papers

NM_000397.4

p.A84A

c.252G>A

19 papers

NM_000397.4

p.G364R

c.1090G>A

19 papers

NM_000397.4

p.G364R

c.1090G>C

17 papers

NM_000397.4

p.I248insFs

c.742dupA

17 papers

NM_000397.4

p.R290*

c.868C>T

16 papers

NM_000397.4

p.R91*

c.271C>T

15 papers

NM_000397.4

p.T178P

c.532A>C

15 papers

NM_000397.4

p.Q231P

c.692A>C