Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.T117S

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.T117S
c.350C>G
Surrounding Variants
9 papers
NM_000398.7
p.T117S
c.349A>T
2 papers
NM_000398.7
p.H118Y
c.352C>T
1 paper
NM_007326.4
p.P96H
c.287C>A
1 paper
NM_000398.7
p.K111_V112Splc
c.334-1G>A
4 papers
NM_000398.7
p.K111_V112Splc
c.334-2A>G
1 paper
NM_000398.7
p.G125E
c.374G>A
5 papers
NM_000398.7
p.M127V
c.379A>G
10 papers
NM_000398.7
p.S128P
c.382T>C
1 paper
NM_000398.7
p.Q129L
c.386A>T
1 paper
NM_000398.7
p.Y130C
c.389A>G
1 paper
NM_000398.7
p.Y130*
c.390C>A
3 papers
NM_000398.7
p.L131P
c.392T>C
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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."