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.W206*

c.617G>A

Surrounding Variants

5 papers

NM_000397.4

p.W206*

c.618G>A

4 papers

NM_000397.4

p.F205L

c.615T>A

4 papers

NM_000397.4

p.F205L

c.615T>G

3 papers

NM_000397.4

p.Y207*

c.621C>A

2 papers

NM_000397.4

p.Y207*

c.621C>G

5 papers

NM_000397.4

p.F205I

c.613T>A

4 papers

NM_000397.4

p.F205L

c.613T>C

1 paper

NM_000397.4

p.T208_I214delFs

c.623_642del20

1 paper

NM_000397.4

p.F205delFs

c.613delT

3 papers

NM_000397.4

p.T208R

c.623C>G

2 papers

NM_000397.4

p.V204A

c.611T>C

3 papers

NM_000397.4

p.H209D

c.625C>G