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.P70_C72del3

c.208_215del9

Surrounding Variants

1 paper

NM_000397.4

p.L69Fs

c.207delinsTTFs

2 papers

NM_000397.4

p.V71_C72delFs

c.211_214del4

1 paper

NM_000397.4

p.V71I

c.211G>A

1 paper

NM_000397.4

p.L68delFs

c.204delC

1 paper

NM_000397.4

p.L68insFs

c.203dupT

1 paper

NM_000397.4

p.V71A

c.212T>C

1 paper

NM_000397.4

p.I67M

c.201T>G

3 papers

NM_000397.4

p.C72R

c.214T>C

1 paper

NM_000397.4

p.I67insFs

c.201dupT

1 paper

NM_000397.4

p.R73_N74del2

c.217_221del6

2 papers

NM_000397.4

p.C72*

c.216T>A

9 papers

NM_000397.4

p.R73*

c.217C>T