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.F212fs

c.634_635fs

Surrounding Variants

1 paper

NM_000397.4

p.L211_F212insFs

c.633_634ins4

2 papers

NM_000397.4

p.F212delFs

c.636delT

1 paper

NM_000397.4

p.L211P

c.632T>C

1 paper

NM_000397.4

p.L211insFs

c.632_633ins4

1 paper

NM_000397.4

p.L211_I214del4

c.631_641del12

1 paper

NM_000397.4

p.H210L

c.629A>T

13 papers

NM_000397.4

p.I214V

c.640A>G

6 papers

NM_000397.4

p.F216del1

c.646_647delTTC

4 papers

NM_000397.4

p.H209Q

c.627T>A

3 papers

NM_000397.4

p.H209Q

c.627T>G

1 paper

NM_000397.4

p.H210_L211insFs

c.628_631dup4

1 paper

NM_000397.4

p.I214delFs

c.642delC