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.C244*

c.732T>A

Surrounding Variants

2 papers

NM_000397.4

p.C244W

c.732T>G

9 papers

NM_000397.4

p.C244Y

c.731G>A

1 paper

NM_000397.4

p.E245K

c.733G>A

6 papers

NM_000397.4

p.C244S

c.731G>C

2 papers

NM_000397.4

p.E245*

c.733G>T

6 papers

NM_000397.4

p.C244S

c.730T>A

4 papers

NM_000397.4

p.C244R

c.730T>C

1 paper

NM_000397.4

p.Q246delFs

c.736delC

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

2 papers

NM_000397.4

p.Q246P

c.737A>C