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

1 paper

NM_000397.4

p.F205delFs

c.613delT

Surrounding Variants

5 papers

NM_000397.4

p.F205I

c.613T>A

4 papers

NM_000397.4

p.F205L

c.613T>C

2 papers

NM_000397.4

p.V204A

c.611T>C

4 papers

NM_000397.4

p.F205L

c.615T>A

4 papers

NM_000397.4

p.F205L

c.615T>G

2 papers

NM_000397.4

p.E203G

c.608A>G

2 papers

NM_000397.4

p.W206*

c.617G>A

1 paper

NM_000397.4

p.E203*

c.607G>T

5 papers

NM_000397.4

p.W206*

c.618G>A

2 papers

NM_000397.4

p.F202L

c.606T>A

2 papers

NM_000397.4

p.F202L

c.606T>G

2 papers

NM_000397.4

p.F202L

c.604T>C