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.V228L

c.682G>C

Surrounding Variants

1 paper

NM_000397.4

p.R229C

c.685C>T

4 papers

NM_000397.4

p.R229H

c.686G>A

1 paper

NM_000397.4

p.R226Q

c.677G>A

1 paper

NM_000397.4

p.R226G

c.676C>G

43 papers

NM_000397.4

p.R226*

c.676C>T

1 paper

NM_000397.4

p.R226fs

c.676_677fs

2 papers

NM_000397.4

p.E225Splc

c.675-1G>A

4 papers

NM_000397.4

p.E225Splc

c.675-1G>T

3 papers

NM_000397.4

p.E225Splc

c.675-2A>G

4 papers

NM_000397.4

p.Q231*

c.691C>T

15 papers

NM_000397.4

p.Q231P

c.692A>C

1 paper

NM_000397.4

p.A233insFs

c.699dupA