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.V104M

c.310G>A

Surrounding Variants

1 paper

NM_000397.4

p.V104L

c.310G>C

1 paper

NM_000397.4

p.V104L

c.310G>T

2 papers

NM_000397.4

p.A105_W106insFs

c.315_316insA

1 paper

NM_000397.4

p.K102T

c.305A>C

2 papers

NM_000397.4

p.W106delFs

c.316delT

2 papers

NM_000397.4

p.W106*

c.317G>A

1 paper

NM_000397.4

p.H101P

c.302A>C

7 papers

NM_000397.4

p.H101R

c.302A>G

1 paper

NM_000397.4

p.H101L

c.302A>T

3 papers

NM_000397.4

p.W106*

c.318G>A

1 paper

NM_000397.4

p.H101D

c.301C>G

8 papers

NM_000397.4

p.H101Y

c.301C>T