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.A51E

c.152C>A

Surrounding Variants

3 papers

NM_000397.4

p.L52P

c.155T>C

1 paper

NM_000397.4

p.L52R

c.155T>G

1 paper

NM_000397.4

p.A53T

c.157G>A

1 paper

NM_000397.4

p.A53P

c.157G>C

1 paper

NM_000397.4

p.A53insFs

c.159dupC

1 paper

NM_000397.4

p.A53delFs

c.159delC

5 papers

NM_000397.4

p.A53D

c.158C>A

1 paper

NM_000397.4

p.A53V

c.158C>T

1 paper

NM_000397.4

p.R54fs

c.160_161fs

5 papers

NM_000397.4

p.R54G

c.160A>G

1 paper

NM_000397.4

p.S48*

c.143C>A

1 paper

NM_000397.4

p.S48*

c.143C>G