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.I177_G179delFs

c.529_535del7

Surrounding Variants

1 paper

NM_000397.4

p.I177_G179del0

c.530_535del6

3 papers

NM_000397.4

p.A175A

c.525A>T

15 papers

NM_000397.4

p.T178P

c.532A>C

1 paper

NM_000397.4

p.A175_G176ins15

c.523_527ins45

1 paper

NM_000397.4

p.L174L

c.522G>A

1 paper

NM_000397.4

p.A175del1

c.523_524delGCA

5 papers

NM_000397.4

p.G179R

c.535G>A

4 papers

NM_000397.4

p.G179R

c.535G>C

1 paper

NM_000397.4

p.G179*

c.535G>T

2 papers

NM_000397.4

p.L174S

c.521T>C

1 paper

NM_000397.4

p.L174_A175insT

c.520_524ins3

1 paper

NM_000397.4

p.L173L

c.519G>T