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

6 papers

NM_000397.4

p.C59R

c.175T>C

Surrounding Variants

1 paper

NM_000397.4

p.A58_C59insFs

c.174_175insT

4 papers

NM_000397.4

p.C59F

c.176G>T

1 paper

NM_000397.4

p.C59*

c.177C>A

1 paper

NM_000397.4

p.C59ins5

c.175_176ins15

4 papers

NM_000397.4

p.C59W

c.177C>G

10 papers

NM_000397.4

p.A57E

c.170C>A

1 paper

NM_000397.4

p.F62delFs

c.184delT

8 papers

NM_000397.4

p.P56L

c.167C>T

1 paper

NM_000397.4

p.N61_F62insFs

c.183_184insCC

1 paper

NM_000397.4

p.F62L

c.184T>C

1 paper

NM_000397.4

p.F62insFs

c.184_185insCC

6 papers

NM_000397.4

p.A55D

c.164C>A