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.E248fs

c.742_743fs

Surrounding Variants

1 paper

NM_016230.4

p.K247fs

c.739_740fs

1 paper

NM_016230.4

p.N249S

c.746A>G

2 papers

NM_016230.4

p.Q245fs

c.733_734fs

1 paper

NM_016230.4

p.Q245*

c.733C>T

2 papers

NM_016230.4

p.Q245delFs

c.734delA

1 paper

NM_016230.4

p.I240V

c.718A>G

1 paper

NM_016230.4

p.H262D

c.784C>G

1 paper

NM_016230.4

p.R232Q

c.695G>A

1 paper

NM_016230.4

p.V231Splc

c.692-202A>G

3 papers

NM_016230.4

p.H223R

c.668A>G

1 paper

NM_016230.4

p.G220Splc

c.659-62T>A

1 paper

NM_016230.4

p.G220Splc

c.659-196A>G