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

3 papers

NM_000397.4

p.Q293*

c.877C>T

Surrounding Variants

1 paper

NM_000397.4

p.Q293R

c.878A>G

1 paper

NM_000397.4

p.Q293Q

c.879G>A

2 papers

NM_000397.4

p.V295E

c.884T>A

1 paper

NM_000397.4

p.S291_K294delFs

c.871_881del11

17 papers

NM_000397.4

p.R290*

c.868C>T

2 papers

NM_000397.4

p.W289*

c.867G>A

3 papers

NM_000397.4

p.W289*

c.866G>A

1 paper

NM_000397.4

p.F288fs

c.862_863fs

2 papers

NM_000397.4

p.K299del1

c.895_896delAAG

1 paper

NM_000397.4

p.R287Q

c.860G>A

6 papers

NM_000397.4

p.K299K

c.897G>A

3 papers

NM_000397.4

p.K299N

c.897G>C