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.L79delFs

c.236delT

Surrounding Variants

1 paper

NM_000397.4

p.L79fs

c.235_236fs

1 paper

NM_000397.4

p.R80_S83del4

c.238_248del12

2 papers

NM_000397.4

p.G81delFs

c.242delG

1 paper

NM_000397.4

p.R80T

c.239G>C

2 papers

NM_000397.4

p.S77F

c.230C>T

2 papers

NM_000397.4

p.G81S

c.241G>A

1 paper

NM_000397.4

p.G81R

c.241G>C

1 paper

NM_000397.4

p.G81fs

c.241_242fs

2 papers

NM_000397.4

p.S77_F78del2

c.229_233del6

2 papers

NM_000397.4

p.S82delFs

c.246delC

1 paper

NM_000397.4

p.L75L

c.225G>A

2 papers

NM_000397.4

p.L75Q

c.224T>A