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

3 papers

NM_000397.4

p.A84_C85Splc

c.253-1G>A

Surrounding Variants

1 paper

NM_000397.4

p.A84_C85Splc

c.253-2A>C

1 paper

NM_000397.4

p.C85R

c.253T>C

1 paper

NM_000397.4

p.C85fs

c.253_254fs

1 paper

NM_000397.4

p.A84_C85Splc

c.253-3A>G

1 paper

NM_000397.4

p.C85Y

c.254G>A

1 paper

NM_000397.4

p.C85_R89delFs

c.253_266del14

1 paper

NM_000397.4

p.C85*

c.255C>A

4 papers

NM_000397.4

p.A84_C85Splc

c.253-8A>G

1 paper

NM_000397.4

p.R89K

c.266G>A

1 paper

NM_000397.4

p.R89T

c.266G>C

1 paper

NM_000397.4

p.V90insFs

c.268_269insA

16 papers

NM_000397.4

p.R91*

c.271C>T