Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.V253M

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
14 papers
NM_000398.7
p.V253M
c.757G>A
Surrounding Variants
1 paper
NM_000398.7
p.G251V
c.752G>T
1 paper
NM_000398.7
p.G249S
c.745G>A
5 papers
NM_000398.7
p.E256del1
c.766_768delCTC
4 papers
NM_000398.7
p.R259W
c.775C>T
4 papers
NM_000398.7
p.A245Splc
c.734-1G>T
1 paper
NM_000398.7
p.P264L
c.791C>T
1 paper
NM_007326.4
p.E244K
c.730G>A
6 papers
NM_000398.7
p.P269L
c.806C>T
1 paper
NM_000398.7
p.L272P
c.815T>C
1 paper
NM_000398.7
p.V271_L272Fs
c.813_815delinsAAFs
7 papers
NM_000398.7
p.M273del1
c.817_818delCAT
1 paper
NM_000398.7
p.C274Y
c.821G>A
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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."