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.N265S

c.794A>G

Surrounding Variants

1 paper

NM_000397.4

p.P266delFs

c.797delC

1 paper

NM_000397.4

p.P266H

c.797C>A

1 paper

NM_000397.4

p.G264A

c.791G>C

1 paper

NM_000397.4

p.A263G

c.788C>G

1 paper

NM_000397.4

p.A263V

c.788C>T

1 paper

NM_000397.4

p.P267delFs

c.801delT

1 paper

NM_000397.4

p.M268del1

c.802_803delATG

1 paper

NM_000397.4

p.M268_T269Splc

c.804+1G>A

1 paper

NM_000397.4

p.F262delFs

c.785_786delTT

4 papers

NM_000397.4

p.M268_T269Splc

c.804+2T>C

1 paper

NM_000397.4

p.Q261*

c.781C>T

1 paper

NM_000397.4

p.P260R

c.779C>G