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.G77Splc

c.230-15T>C

Surrounding Variants

1 paper

NM_016230.4

p.V79I

c.235G>A

1 paper

NM_016230.4

p.E87Q

c.259G>C

1 paper

NM_016230.4

p.E87G

c.260A>G

1 paper

NM_016230.4

p.H89Y

c.265C>T

1 paper

NM_016230.4

p.E93Q

c.277G>C

1 paper

NM_016230.4

p.E93G

c.278A>G

1 paper

NM_016230.4

p.T105A

c.313A>G

1 paper

NM_016230.4

p.Q110_V111Splc

c.330+81G>A