Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R50W

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
4 papers
NM_000398.7
p.R50W
c.148C>T
Surrounding Variants
8 papers
NM_000398.7
p.R50Q
c.149G>A
1 paper
NM_007326.4
p.D26H
c.76G>C
1 paper
NM_000398.7
p.E51_I52Splc
c.153+2T>C
1 paper
NM_000398.7
p.L47P
c.140T>C
1 paper
NM_000398.7
p.L47H
c.140T>A
1 paper
NM_000398.7
p.R46R
c.138G>A
1 paper
NM_000398.7
p.R46P
c.137G>C
1 paper
NM_000398.7
p.R46Q
c.137G>A
4 papers
NM_000398.7
p.R46W
c.136C>T
NM_001171660.2
p.R79W
c.235C>T
2 papers
NM_000398.7
p.P44P
c.132G>A
1 paper
NM_001171660.2
p.P77S
c.229C>T
3 papers
NM_000398.7
p.Y43*
c.129C>G
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