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.L184_S192delFs

c.552_574del23

Surrounding Variants

1 paper

NM_000397.4

p.L184L

c.550C>T

2 papers

NM_000397.4

p.C185R

c.553T>C

1 paper

NM_000397.4

p.C185delFs

c.554delG

1 paper

NM_000397.4

p.C185fs

c.553_554fs

1 paper

NM_000397.4

p.I187_I189insFs

c.560_567dup8

2 papers

NM_000397.4

p.I187R

c.560T>G

3 papers

NM_000397.4

p.I189_I190delFs

c.565_568del4

1 paper

NM_000397.4

p.L188fs

c.562_563fs

1 paper

NM_000397.4

p.I189delFs

c.565delA

5 papers

NM_000397.4

p.G179R

c.535G>A

4 papers

NM_000397.4

p.G179R

c.535G>C

1 paper

NM_000397.4

p.G179*

c.535G>T