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.L342L

c.1024C>T

Surrounding Variants

1 paper

NM_000397.4

p.L342M

c.1024C>A

1 paper

NM_000397.4

p.L342del1

c.1024_1026delCTG

5 papers

NM_000397.4

p.L342Q

c.1025T>A

6 papers

NM_000397.4

p.T341K

c.1022C>A

3 papers

NM_000397.4

p.T341I

c.1022C>T

3 papers

NM_000397.4

p.T343P

c.1027A>C

1 paper

NM_000397.4

p.T341fs

c.1021_1022fs

2 papers

NM_000397.4

p.T343K

c.1028C>A

2 papers

NM_000397.4

p.F340S

c.1019T>C

1 paper

NM_000397.4

p.S344P

c.1030T>C

1 paper

NM_000397.4

p.S344delFs

c.1032delC

4 papers

NM_000397.4

p.S344F

c.1031C>T