Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.Q77*

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
11 papers
NM_000398.7
p.Q77*
c.229C>T
Surrounding Variants
1 paper
NM_000398.7
p.Q77H
c.231G>T
1 paper
NM_000398.7
p.Q77H
c.231G>C
3 papers
NM_000398.7
p.G76D
c.227G>A
1 paper
NM_000398.7
p.G76C
c.226G>T
13 papers
NM_000398.7
p.G76S
c.226G>A
1 paper
NM_000398.7
p.A83T
c.247G>A
7 papers
NM_000398.7
p.R84*
c.250C>T
2 papers
NM_000398.7
p.R84L
c.251G>T
NM_007326.4
p.R61L
c.182G>T
1 paper
NM_007326.4
p.R61P
c.182G>C
2 papers
NM_000398.7
p.I85S
c.254T>G
1 paper
NM_000398.7
p.V90V
c.270C>T
4 papers
NM_000398.7
p.R92W
c.274C>T
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