Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.H46Y

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_001129819.2
p.H46Y
c.136C>T
Surrounding Variants
1 paper
NM_000398.7
p.S66insFs
c.198dupA
1 paper
NM_000398.7
p.S66P
c.196T>C
3 papers
NM_000398.7
p.G72S
c.214G>A
1 paper
NM_000398.7
p.G72fs
c.214_215fs
1 paper
NM_000398.7
p.G72A
c.215G>C
5 papers
NM_000398.7
p.P65L
c.194C>T
4 papers
NM_000398.7
p.G72delFs
c.215delC
1 paper
NM_000398.7
p.L73R
c.218T>G
5 papers
NM_000398.7
p.L73P
c.218T>C
2 papers
NM_000398.7
p.L64V
c.190C>G
6 papers
NM_000398.7
p.G76S
c.226G>A
1 paper
NM_000398.7
p.G76insFs
c.226_227ins20
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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."