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.F317I

c.949T>A

Surrounding Variants

2 papers

NM_000397.4

p.E320delFs

c.958delG

1 paper

NM_000397.4

p.K314R

c.941A>G

1 paper

NM_000397.4

p.E320_V321insFs

c.960_961insA

1 paper

NM_000397.4

p.E320insFs

c.958_959insT

1 paper

NM_000397.4

p.E320*

c.958G>T

1 paper

NM_000397.4

p.V321fs

c.961_962fs

1 paper

NM_000397.4

p.V321fs

c.961_962fs

1 paper

NM_000397.4

p.V321A

c.962T>C

1 paper

NM_000397.4

p.V321G

c.962T>G

2 papers

NM_000397.4

p.G322delFs

c.965delG

6 papers

NM_000397.4

p.M312K

c.935T>A

1 paper

NM_000397.4

p.M312R

c.935T>G