Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R2
Variant:p.H44N

CYB5R2

34 papers

RefSeq Summary

The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes inc...

Pfam Domains

FAD_binding_6aa 19–126UCSCOxidoreductase FAD-binding domain
NAD_binding_1aa 152–260UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

cytochrome b5 reductase 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016229.5
p.H44N
c.130C>A
Surrounding Variants
1 paper
NM_016229.5
p.L48L
c.144T>C
1 paper
NM_016229.5
p.L20P
c.59T>C
1 paper
NM_016229.5
p.P19S
c.55C>T
2 papers
NM_016229.5
p.E15A
c.44A>C
1 paper
NM_016229.5
p.A58V
c.173C>T
1 paper
NM_016229.5
p.E63K
c.187G>A
1 paper
NM_016229.5
p.P120T
c.358C>A
1 paper
NM_016229.5
p.R121R
c.363G>A
1 paper
NM_016229.5
p.G122*
c.364G>T
1 paper
NM_016229.5
p.R123H
c.368G>A
2 papers
NM_016229.5
p.G130E
c.389G>A
1 paper
NM_016229.5
p.N131S
c.392A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."