Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R160*

CYB5R3

140 papers

RefSeq Summary

This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythr...

Pfam Domains

FAD_binding_6aa 44–151UCSCOxidoreductase FAD-binding domain
NAD_binding_1aa 177–285UCSCOxidoreductase NAD-binding domain

Gene Aliases

HGNC Name

cytochrome b5 reductase 3

HGNC Previous Symbol

DIA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_000398.7
p.R160*
c.478C>T
Surrounding Variants
2 papers
NM_000398.7
p.R160P
c.479G>C
1 paper
NM_000398.7
p.R160Q
c.479G>A
1 paper
NM_000398.7
p.P161S
c.481C>T
1 paper
NM_000398.7
p.F157L
c.471C>G
1 paper
NM_000398.7
p.F157L
c.471C>A
3 papers
NM_000398.7
p.F157C
c.470T>G
1 paper
NM_000398.7
p.F157S
c.470T>C
2 papers
NM_000398.7
p.F157L
c.469T>C
2 papers
NM_000398.7
p.G155E
c.464G>A
7 papers
NM_000398.7
p.G155Splc
c.464-2A>C
1 paper
NM_000398.7
p.R170insFs
c.509dupG
2 papers
NM_000398.7
p.V172L
c.514G>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."