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.Y137N

c.409T>A

Surrounding Variants

1 paper

NM_000397.4

p.P136R

c.407C>G

1 paper

NM_000397.4

p.V139I

c.415G>A

1 paper

NM_000397.4

p.V139L

c.415G>C

1 paper

NM_000397.4

p.A140G

c.419C>G

1 paper

NM_000397.4

p.S142delFs

c.425_426delCT

5 papers

NM_000397.4

p.L141P

c.422T>C

1 paper

NM_000397.4

p.S142P

c.424T>C

1 paper

NM_000397.4

p.N132delFs

c.394delA

1 paper

NM_000397.4

p.E143Q

c.427G>C

2 papers

NM_000397.4

p.E143D

c.429A>C

2 papers

NM_000397.4

p.E143D

c.429A>T

7 papers

NM_000397.4

p.R130Q

c.389G>A