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.K161N

c.483G>C

Surrounding Variants

3 papers

NM_000397.4

p.K161K

c.483G>A

1 paper

NM_000397.4

p.K161N

c.483G>T

1 paper

NM_000397.4

p.K161R

c.482A>G

5 papers

NM_000397.4

p.K161_N162Splc

c.483+1G>A

2 papers

NM_000397.4

p.K161_N162Splc

c.483+1G>C

2 papers

NM_000397.4

p.K161_N162Splc

c.483+1G>T

4 papers

NM_000397.4

p.K161E

c.481A>G

4 papers

NM_000397.4

p.K161*

c.481A>T

1 paper

NM_000397.4

p.K161_N162Splc

c.483+2T>C

1 paper

NM_000397.4

p.K161_N162Splc

c.483+3A>T

1 paper

NM_000397.4

p.K161del1

c.481_482delAAG

1 paper

NM_000397.4

p.K161delFs

c.482delA