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

2 papers

NM_000397.4

p.K384N

c.1152G>T

Surrounding Variants

4 papers

NM_000397.4

p.K384Splc

c.1151+1G>A

2 papers

NM_000397.4

p.K384N

c.1152G>C

1 paper

NM_000397.4

p.K384Splc

c.1151+2T>C

1 paper

NM_000397.4

p.K384fs

c.1150_1151fs

1 paper

NM_000397.4

p.K384delFs

c.1150_1151delAA

2 papers

NM_000397.4

p.P383H

c.1148C>A

3 papers

NM_000397.4

p.P383L

c.1148C>T

1 paper

NM_000397.4

p.P383_K384delFs

c.1149_1150delTA

1 paper

NM_000397.4

p.K384Splc

c.1151+6T>A

5 papers

NM_000397.4

p.W380*

c.1140G>A

7 papers

NM_000397.4

p.W380*

c.1139G>A

1 paper

NM_000397.4

p.W380fs

c.1138_1139fs