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.L310P

c.929T>C

Surrounding Variants

2 papers

NM_000397.4

p.L310Q

c.929T>A

11 papers

NM_000397.4

p.L310L

c.930A>G

1 paper

NM_000397.4

p.Q311*

c.931C>T

1 paper

NM_000397.4

p.Q311R

c.932A>G

24 papers

NM_000397.4

p.E309K

c.925G>A

1 paper

NM_000397.4

p.E309*

c.925G>T

6 papers

NM_000397.4

p.M312K

c.935T>A

2 papers

NM_000397.4

p.I308T

c.923T>C

1 paper

NM_000397.4

p.M312R

c.935T>G

3 papers

NM_000397.4

p.K315del1

c.943_944delAAG

1 paper

NM_000397.4

p.I308fs

c.922_923fs

4 papers

NM_000397.4

p.T307P

c.919A>C