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.T194delFs

c.580delA

Surrounding Variants

1 paper

NM_000397.4

p.S193S

c.579C>G

1 paper

NM_000397.4

p.T194S

c.580A>T

3 papers

NM_000397.4

p.S193F

c.578C>T

1 paper

NM_000397.4

p.T194S

c.581C>G

6 papers

NM_000397.4

p.S193P

c.577T>C

1 paper

NM_000397.4

p.S192S

c.576C>T

1 paper

NM_000397.4

p.K195E

c.583A>G

1 paper

NM_000397.4

p.S192ins2

c.574_575ins6

1 paper

NM_000397.4

p.T191S

c.572C>G

1 paper

NM_000397.4

p.T191S

c.571A>T

1 paper

NM_000397.4

p.I190delFs

c.570delC

1 paper

NM_000397.4

p.I190fs

c.568_569fs