Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R1

CYB5R1

33 papers

Pfam Domains

FAD_binding_6aa 48–155UCSCOxidoreductase FAD-binding domain
NAD_binding_1aa 181–289UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

cytochrome b5 reductase 1

HGNC Previous Symbol

NQO3A2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 26 variants
6 papers
NM_016243.3
p.N44S
c.131A>G
3 papers
NM_016243.3
p.W240C
c.720G>T
3 papers
NM_016243.3
p.W240C
c.720G>C
2 papers
NM_016243.3
p.R147W
c.439C>T
2 papers
NM_016243.3
p.P173R
c.518C>G
1 paper
NM_016243.3
p.S6I
c.17G>T
1 paper
NM_016243.3
p.N60_T61delFs
c.180_183del4
1 paper
NM_016243.3
p.A67V
c.200C>T
1 paper
NM_016243.3
p.L68L
c.202C>T
1 paper
NM_016243.3
p.L85I
c.253C>A
1 paper
NM_016243.3
p.I89T
c.266T>C
1 paper
NM_016243.3
p.R96W
c.286A>T
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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."