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.E225Splc

c.674+6T>C

Surrounding Variants

1 paper

NM_000397.4

p.E225Splc

c.674+5G>A

2 papers

NM_000397.4

p.E225Splc

c.674+5G>C

3 papers

NM_000397.4

p.E225Splc

c.674+4A>G

1 paper

NM_000397.4

p.E225Splc

c.674+3G>T

1 paper

NM_000397.4

p.E225Splc

c.674+2T>C

2 papers

NM_000397.4

p.E225D

c.675A>C

2 papers

NM_000397.4

p.E225D

c.675A>T

2 papers

NM_000397.4

p.E225V

c.674A>T

1 paper

NM_000397.4

p.A224G

c.671C>G

2 papers

NM_000397.4

p.G223*

c.667G>T

1 paper

NM_000397.4

p.H222Q

c.666T>A

1 paper

NM_000397.4

p.H222Q

c.666T>G