Varaico: Literature-Extracted Genetic Variants

CYB5R4

46 papers

RefSeq Summary

NCB5OR is a flavohemoprotein that contains functional domains found in both cytochrome b5 (CYB5A; MIM 613218) and CYB5 reductase (CYB5R3; MIM 613213) (Zhu et al., 1999 [PubMed 10611283]).[supplied by ...

Pfam Domains

Cyt-b5aa 58–130UCSCCytochrome b5-like Heme/Steroid binding domain

CSaa 168–246UCSCCS domain

FAD_binding_6aa 277–384UCSCOxidoreductase FAD-binding domain

NAD_binding_1aa 395–503UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

cytochrome b5 reductase 4

HGNC Previous Symbol

NCB5OR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_016230.4

p.G308V

c.923G>T

Surrounding Variants

1 paper

NM_016230.4

p.D285V

c.854A>T

1 paper

NM_016230.4

p.K277T

c.830A>C

1 paper

NM_016230.4

p.P362S

c.1084C>T

1 paper

NM_016230.4

p.D371H

c.1111G>C

1 paper

NM_016230.4

p.S385F

c.1154C>T

1 paper

NM_016230.4

p.D392E

c.1176T>A

1 paper

NM_016230.4

p.D392E

c.1176T>G

1 paper

NM_016230.4

p.N410Y

c.1228A>T

1 paper

NM_016230.4

p.M425I

c.1275G>A

1 paper

NM_016230.4

p.M425I

c.1275G>C

1 paper

NM_016230.4

p.M425I

c.1275G>T

3 papers

NM_016230.4

p.K446E

c.1336A>G