Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R2
Variant:p.*277insFs

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
2 papers
NM_016229.5
p.*277insFs
c.830_831ins4
Surrounding Variants
2 papers
NM_016229.5
p.*277K
c.829T>A
1 paper
NM_016229.5
p.I255V
c.763A>G
1 paper
NM_016229.5
p.L254L
c.760C>T
1 paper
NM_016229.5
p.P251L
c.752C>T
1 paper
NM_016229.5
p.V248E
c.743T>A
1 paper
NM_016229.5
p.T244T
c.732G>A
1 paper
NM_016229.5
p.P240S
c.718C>T
1 paper
NM_016229.5
p.K234K
c.702G>A
1 paper
NM_016229.5
p.D231H
c.691G>C
1 paper
NM_016229.5
p.G226R
c.676G>C
1 paper
NM_016229.5
p.W221_K222insFs
c.663_664insG
1 paper
NM_016229.5
p.G220S
c.658G>A
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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."