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

2 papers

NM_000397.4

p.W270*

c.810G>A

Surrounding Variants

1 paper

NM_000397.4

p.W270*

c.809G>A

1 paper

NM_000397.4

p.W272*

c.815G>A

1 paper

NM_000397.4

p.W272*

c.816G>A

1 paper

NM_000397.4

p.I273insFs

c.817dupA

4 papers

NM_000397.4

p.M268_T269Splc

c.805-1G>T

1 paper

NM_000397.4

p.I273_V274delFs

c.819_822del4

1 paper

NM_000397.4

p.G275delFs

c.824delG

1 paper

NM_000397.4

p.G275D

c.824G>A

2 papers

NM_000397.4

p.L279P

c.836T>C

1 paper

NM_000397.4

p.Y280insFs

c.838dupT

1 paper

NM_000397.4

p.Y280*

c.840T>A

1 paper

NM_000397.4

p.Y280*

c.840T>G