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

4 papers

NM_000397.4

p.S333P

c.997T>C

Surrounding Variants

2 papers

NM_000397.4

p.S333F

c.998C>T

1 paper

NM_000397.4

p.K331delFs

c.993delG

5 papers

NM_000397.4

p.E336*

c.1006G>T

1 paper

NM_000397.4

p.C329*

c.987C>A

3 papers

NM_000397.4

p.C329R

c.985T>C

2 papers

NM_000397.4

p.W337*

c.1010G>A

2 papers

NM_000397.4

p.W337*

c.1011G>A

1 paper

NM_000397.4

p.H338D

c.1012C>G

12 papers

NM_000397.4

p.H338Y

c.1012C>T

2 papers

NM_000397.4

p.P339insFs

c.1016_1017insC

1 paper

NM_000397.4

p.H338P

c.1013A>C

2 papers

NM_000397.4

p.H338R

c.1013A>G