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.A84fs

c.250_251fs

Surrounding Variants

2 papers

NM_000397.4

p.A84T

c.250G>A

1 paper

NM_000397.4

p.A84_C85insFs

c.252_253insAG

2 papers

NM_000397.4

p.A84del1

c.250_251delGCG

20 papers

NM_000397.4

p.A84A

c.252G>A

6 papers

NM_000397.4

p.A84A

c.252G>T

2 papers

NM_000397.4

p.A84_C85Splc

c.252+1G>C

1 paper

NM_000397.4

p.A84_C85Splc

c.252+2T>G

2 papers

NM_000397.4

p.S82delFs

c.246delC

2 papers

NM_000397.4

p.A84_C85Splc

c.252+5G>A

4 papers

NM_000397.4

p.A84_C85Splc

c.252+5G>C

2 papers

NM_000397.4

p.G81S

c.241G>A

1 paper

NM_000397.4

p.G81R

c.241G>C