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.H303Q

c.909C>G

Surrounding Variants

1 paper

NM_000397.4

p.H303Q

c.909C>A

2 papers

NM_000397.4

p.H303_P304insFs

c.909_910insA

10 papers

NM_000397.4

p.H303N

c.907C>A

13 papers

NM_000397.4

p.P304R

c.911C>G

3 papers

NM_000397.4

p.H303Y

c.907C>T

1 paper

NM_000397.4

p.T302I

c.905C>T

1 paper

NM_000397.4

p.T302insFs

c.904_905insC

2 papers

NM_000397.4

p.T302P

c.904A>C

1 paper

NM_000397.4

p.K306_T307Fs

c.916_919delinsAAGFs

1 paper

NM_000397.4

p.T307_Q311delFs

c.921_931del11

4 papers

NM_000397.4

p.T307P

c.919A>C

1 paper

NM_000397.4

p.I308fs

c.922_923fs