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.A113Splc

c.338-5T>A

Surrounding Variants

2 papers

NM_000397.4

p.A113Splc

c.338-2A>C

1 paper

NM_000397.4

p.A113Splc

c.338-2A>G

1 paper

NM_000397.4

p.A113Splc

c.338-1G>A

2 papers

NM_000397.4

p.H115_T116delFs

c.345_346delCA

2 papers

NM_000397.4

p.H115D

c.343C>G

1 paper

NM_000397.4

p.H115Y

c.343C>T

4 papers

NM_000397.4

p.H115L

c.344A>T

2 papers

NM_000397.4

p.H115Q

c.345C>A

3 papers

NM_000397.4

p.H115Q

c.345C>G

1 paper

NM_000397.4

p.I117insFs

c.349_350insA

1 paper

NM_000397.4

p.I117fs

c.349_350fs

1 paper

NM_000397.4

p.A118delins

c.353_354delinsAA