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

1–12 of 69 variants

3 papers

NM_016230.4

p.R140H

c.419G>A

3 papers

NM_016230.4

p.H223R

c.668A>G

3 papers

NM_016230.4

p.K446E

c.1336A>G

2 papers

NM_016230.4

p.H112Y

c.334C>T

2 papers

NM_016230.4

p.Q245fs

c.733_734fs

2 papers

NM_016230.4

p.Q245delFs

c.734delA

1 paper

NM_016230.4

p.Q15L

c.44A>T

1 paper

NM_016230.4

p.S20fs

c.58_59fs

1 paper

NM_016230.4

p.K25_V26Splc

c.75+132A>G

1 paper

NM_016230.4

p.H65Y

c.193C>T

1 paper

NM_016230.4

p.G77Splc

c.230-15T>C

1 paper

NM_016230.4

p.V79I

c.235G>A