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

3 papers

NM_000397.4

p.R198Q

c.593G>A

Surrounding Variants

1 paper

NM_000397.4

p.R198G

c.592C>G

1 paper

NM_000397.4

p.R198W

c.592C>T

1 paper

NM_000397.4

p.S200_Y201insFs

c.600_603dup4

1 paper

NM_000397.4

p.S200fs

c.598_599fs

1 paper

NM_000397.4

p.Y201_F202delFs

c.602_605del4

1 paper

NM_000397.4

p.S200Fs

c.599delinsGTFs

1 paper

NM_000397.4

p.S200F

c.599C>T

1 paper

NM_000397.4

p.Y201delFs

c.601delT

1 paper

NM_000397.4

p.K195E

c.583A>G

1 paper

NM_000397.4

p.Y201*

c.603C>A

1 paper

NM_000397.4

p.Y201*

c.603C>G

2 papers

NM_000397.4

p.F202L

c.604T>C