Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.I178T

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.I178T
c.533T>C
Surrounding Variants
2 papers
NM_000398.7
p.M177I
c.531G>T
2 papers
NM_000398.7
p.M177I
c.531G>C
14 papers
NM_000398.7
p.A179T
c.535G>A
2 papers
NM_000398.7
p.M177I
c.531G>A
4 papers
NM_000398.7
p.M177T
c.530T>C
7 papers
NM_000398.7
p.A179V
c.536C>T
3 papers
NM_000398.7
p.M177V
c.529A>G
1 paper
NM_000398.7
p.V175del1
c.523_524delCAC
1 paper
NM_000398.7
p.K173_V175del0
c.517_525del9
1 paper
NM_000398.7
p.T182I
c.545C>T
4 papers
NM_000398.7
p.G183Splc
c.547+1G>A
2 papers
NM_000398.7
p.V172L
c.514G>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."