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.N122H

c.364A>C

Surrounding Variants

2 papers

NM_000397.4

p.N122S

c.365A>G

1 paper

NM_000397.4

p.N122K

c.366T>A

1 paper

NM_000397.4

p.N122K

c.366T>G

3 papers

NM_000397.4

p.L120P

c.359T>C

3 papers

NM_000397.4

p.E124*

c.370G>T

2 papers

NM_000397.4

p.E124A

c.371A>C

1 paper

NM_000397.4

p.E124G

c.371A>G

4 papers

NM_000397.4

p.H119R

c.356A>G

2 papers

NM_000397.4

p.H119L

c.356A>T

3 papers

NM_000397.4

p.W125*

c.374G>A

1 paper

NM_000397.4

p.A118delins

c.353_354delinsAA

1 paper

NM_000397.4

p.A118Fs

c.354delinsAAFs