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.P133L

c.398C>T

Surrounding Variants

1 paper

NM_016230.4

p.E118A

c.353A>C

2 papers

NM_016230.4

p.H112Y

c.334C>T

1 paper

NM_016230.4

p.Q110_V111Splc

c.331-255C>T

1 paper

NM_016230.4

p.D138Splc

c.413-124C>T

1 paper

NM_016230.4

p.D138Splc

c.413-89A>T

1 paper

NM_016230.4

p.D138Splc

c.413-2A>C

3 papers

NM_016230.4

p.R140H

c.419G>A

1 paper

NM_016230.4

p.K145Q

c.433A>C

1 paper

NM_016230.4

p.G149Splc

c.445+4A>G

1 paper

NM_016230.4

p.G149Splc

c.446-245A>G

1 paper

NM_016230.4

p.G149Splc

c.446-131T>C

1 paper

NM_016230.4

p.G149Splc

c.446-58A>T