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.I248insFs

c.743_744insA

Surrounding Variants

5 papers

NM_000397.4

p.I248fs

c.742_743fs

1 paper

NM_000397.4

p.S249*

c.746C>A

1 paper

NM_000397.4

p.S249insFs

c.747dupA

1 paper

NM_000397.4

p.S249*

c.746C>G

1 paper

NM_000397.4

p.E250Q

c.748G>C

2 papers

NM_000397.4

p.Q246P

c.737A>C

1 paper

NM_000397.4

p.E250E

c.750A>G

17 papers

NM_000397.4

p.I248insFs

c.742dupA

7 papers

NM_000397.4

p.Q246*

c.736C>T

5 papers

NM_000397.4

p.I248delFs

c.742delA

1 paper

NM_000397.4

p.Q246delFs

c.736delC

2 papers

NM_000397.4

p.G252delFs

c.755delG