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.I325N

c.974T>A

Surrounding Variants

8 papers

NM_000397.4

p.I325F

c.973A>T

1 paper

NM_000397.4

p.Y324_I325delFs

c.972_973delCA

1 paper

NM_000397.4

p.Q323P

c.968A>C

1 paper

NM_000397.4

p.V327D

c.980T>A

1 paper

NM_000397.4

p.Q323_V327delFs

c.967_979del13

7 papers

NM_000397.4

p.G322E

c.965G>A

3 papers

NM_000397.4

p.C329R

c.985T>C

1 paper

NM_000397.4

p.V321A

c.962T>C

1 paper

NM_000397.4

p.V321G

c.962T>G

2 papers

NM_000397.4

p.G322delFs

c.965delG

1 paper

NM_000397.4

p.C329*

c.987C>A

1 paper

NM_000397.4

p.V321fs

c.961_962fs