Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.G104C

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
3 papers
NM_000398.7
p.G104C
c.310G>T
Surrounding Variants
1 paper
NM_000398.7
p.F105L
c.313T>C
6 papers
NM_000398.7
p.V106M
c.316G>A
1 paper
NM_000398.7
p.V106V
c.318G>A
1 paper
NM_000398.7
p.V109A
c.326T>C
1 paper
NM_000398.7
p.S98C
c.293C>G
1 paper
NM_000398.7
p.K111E
c.331A>G
4 papers
NM_000398.7
p.K111M
c.332A>T
4 papers
NM_000398.7
p.P96H
c.287C>A
1 paper
NM_000398.7
p.Y94C
c.281A>G
2 papers
NM_000398.7
p.P93H
c.278C>A
4 papers
NM_000398.7
p.R92W
c.274C>T
1 paper
NM_000398.7
p.V90V
c.270C>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."