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

2 papers

NM_000397.4

p.I308T

c.923T>C

Surrounding Variants

1 paper

NM_000397.4

p.I308fs

c.922_923fs

24 papers

NM_000397.4

p.E309K

c.925G>A

1 paper

NM_000397.4

p.E309*

c.925G>T

4 papers

NM_000397.4

p.T307P

c.919A>C

1 paper

NM_000397.4

p.K306_T307Fs

c.916_919delinsAAGFs

1 paper

NM_000397.4

p.T307_Q311delFs

c.921_931del11

2 papers

NM_000397.4

p.L310Q

c.929T>A

1 paper

NM_000397.4

p.L310P

c.929T>C

11 papers

NM_000397.4

p.L310L

c.930A>G

1 paper

NM_000397.4

p.Q311*

c.931C>T

1 paper

NM_000397.4

p.Q311R

c.932A>G

13 papers

NM_000397.4

p.P304R

c.911C>G