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.C257R

c.769T>C

Surrounding Variants

1 paper

NM_000397.4

p.C257S

c.769T>A

1 paper

NM_000397.4

p.C257Y

c.770G>A

1 paper

NM_000397.4

p.C257S

c.770G>C

1 paper

NM_000397.4

p.C257*

c.771C>A

1 paper

NM_000397.4

p.E256insFs

c.767_768dupAA

2 papers

NM_000397.4

p.K255delFs

c.765delG

1 paper

NM_000397.4

p.K255fs

c.763_764fs

1 paper

NM_000397.4

p.I254_A263delFs

c.761_789del29

1 paper

NM_000397.4

p.P260S

c.778C>T

1 paper

NM_000397.4

p.P260R

c.779C>G

1 paper

NM_000397.4

p.P260L

c.779C>T

1 paper

NM_000397.4

p.Q261*

c.781C>T