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.H222L

c.665A>T

Surrounding Variants

10 papers

NM_000397.4

p.H222R

c.665A>G

4 papers

NM_000397.4

p.H222N

c.664C>A

5 papers

NM_000397.4

p.H222Y

c.664C>T

1 paper

NM_000397.4

p.H222_E225del0

c.666_674del9

1 paper

NM_000397.4

p.H222Q

c.666T>A

1 paper

NM_000397.4

p.H222Q

c.666T>G

2 papers

NM_000397.4

p.G223*

c.667G>T

1 paper

NM_000397.4

p.A224G

c.671C>G

2 papers

NM_000397.4

p.E225V

c.674A>T

2 papers

NM_000397.4

p.E225D

c.675A>C

2 papers

NM_000397.4

p.E225D

c.675A>T

1 paper

NM_000397.4

p.L219V

c.655C>G