Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R143W

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
1 paper
NM_000398.7
p.R143W
c.427C>T
Surrounding Variants
2 papers
NM_000398.7
p.G144V
c.431G>T
5 papers
NM_000398.7
p.G144D
c.431G>A
5 papers
NM_000398.7
p.P145S
c.433C>T
5 papers
NM_000398.7
p.P145L
c.434C>T
1 paper
NM_000398.7
p.D138N
c.412G>A
6 papers
NM_000398.7
p.L148P
c.443T>C
1 paper
NM_000398.7
p.G137R
c.409G>C
1 paper
NM_000398.7
p.G137R
c.409G>A
1 paper
NM_000398.7
p.L149R
c.446T>G
4 papers
NM_000398.7
p.L149P
c.446T>C
1 paper
NM_000398.7
p.Y151H
c.451T>C
1 paper
NM_000398.7
p.M134I
c.402G>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."