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.K158*

c.472A>T

Surrounding Variants

1 paper

NM_000397.4

p.K158R

c.473A>G

2 papers

NM_000397.4

p.R159*

c.475A>T

1 paper

NM_000397.4

p.R157fs

c.469_470fs

33 papers

NM_000397.4

p.R157*

c.469C>T

2 papers

NM_000397.4

p.I160insFs

c.479dupT

1 paper

NM_000397.4

p.I160V

c.478A>G

7 papers

NM_000397.4

p.A156T

c.466G>A

1 paper

NM_000397.4

p.K161delFs

c.482delA

1 paper

NM_000397.4

p.K161del1

c.481_482delAAG

1 paper

NM_000397.4

p.F155C

c.464T>G

4 papers

NM_000397.4

p.K161E

c.481A>G

4 papers

NM_000397.4

p.K161*

c.481A>T