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.N74insFs

c.221_222ins5

Surrounding Variants

1 paper

NM_000397.4

p.L75delFs

c.223delC

2 papers

NM_000397.4

p.L75_L76del2

c.223_227del6

2 papers

NM_000397.4

p.L75M

c.223C>A

1 paper

NM_000397.4

p.L75L

c.223C>T

1 paper

NM_000397.4

p.R73P

c.218G>C

2 papers

NM_000397.4

p.L75Q

c.224T>A

9 papers

NM_000397.4

p.R73*

c.217C>T

1 paper

NM_000397.4

p.L75L

c.225G>A

2 papers

NM_000397.4

p.C72*

c.216T>A

1 paper

NM_000397.4

p.R73_N74del2

c.217_221del6

2 papers

NM_000397.4

p.S77_F78del2

c.229_233del6

3 papers

NM_000397.4

p.C72R

c.214T>C