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.D95D

c.285C>T

Surrounding Variants

1 paper

NM_000397.4

p.D95A

c.284A>C

1 paper

NM_000397.4

p.D95delFs

c.284delA

1 paper

NM_000397.4

p.N97H

c.289A>C

1 paper

NM_000397.4

p.L98F

c.292C>T

1 paper

NM_000397.4

p.T99_H101delFs

c.295_301del7

5 papers

NM_000397.4

p.Q93*

c.277C>T

1 paper

NM_000397.4

p.L98H

c.293T>A

1 paper

NM_000397.4

p.T99_K102del0

c.295_306del12

1 paper

NM_000397.4

p.T99delFs

c.297delC

1 paper

NM_000397.4

p.T99_A105delFs

c.297_313del17

2 papers

NM_000397.4

p.R91L

c.272G>T

16 papers

NM_000397.4

p.R91*

c.271C>T