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.L167L

c.499C>T

Surrounding Variants

1 paper

NM_000397.4

p.L169V

c.505C>G

2 papers

NM_000397.4

p.G165*

c.493G>T

1 paper

NM_000397.4

p.G165delFs

c.493delG

1 paper

NM_000397.4

p.E164*

c.490G>T

1 paper

NM_000397.4

p.E164delFs

c.492delA

3 papers

NM_000397.4

p.L173delFs

c.517delC

2 papers

NM_000397.4

p.K161_N162Splc

c.484-1G>C

1 paper

NM_000397.4

p.K161_N162Splc

c.484-3C>A

1 paper

NM_000397.4

p.L173fs

c.517_518fs

1 paper

NM_000397.4

p.L173L

c.519G>T

1 paper

NM_000397.4

p.L174_A175insT

c.520_524ins3

2 papers

NM_000397.4

p.L174S

c.521T>C