Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R2
Variant:p.A154D

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.A154D
c.461C>A
Surrounding Variants
1 paper
NM_016229.5
p.H149L
c.446A>T
1 paper
NM_016229.5
p.L146Q
c.437T>A
1 paper
NM_016229.5
p.T145fs
c.433_434fs
1 paper
NM_016229.5
p.T145insFs
c.433dupA
2 papers
NM_016229.5
p.T145delFs
c.433delT
1 paper
NM_016229.5
p.T145fs
c.433_434fs
1 paper
NM_016229.5
p.K143N
c.429A>C
1 paper
NM_016229.5
p.T139M
c.416C>T
1 paper
NM_016229.5
p.Q138*
c.412C>T
1 paper
NM_016229.5
p.I134T
c.401T>C
1 paper
NM_016229.5
p.N131S
c.392A>G
2 papers
NM_016229.5
p.G130E
c.389G>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."