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

2 papers

NM_000397.4

p.N63K

c.189C>A

Surrounding Variants

2 papers

NM_000397.4

p.N63K

c.189C>G

3 papers

NM_000397.4

p.C64R

c.190T>C

1 paper

NM_000397.4

p.F62L

c.186C>A

1 paper

NM_000397.4

p.F62L

c.186C>G

1 paper

NM_000397.4

p.F62L

c.184T>C

2 papers

NM_000397.4

p.M65R

c.194T>G

1 paper

NM_000397.4

p.F62insFs

c.184_185insCC

1 paper

NM_000397.4

p.N61_F62insFs

c.183_184insCC

1 paper

NM_000397.4

p.F62delFs

c.184delT

2 papers

NM_000397.4

p.L66L

c.196C>T

1 paper

NM_000397.4

p.L66P

c.197T>C

1 paper

NM_000397.4

p.I67insFs

c.201dupT