Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.L26Q

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_000398.7
p.L26Q
c.77T>A
Surrounding Variants
1 paper
NM_000398.7
p.L26R
c.77T>G
1 paper
NM_000398.7
p.K25R
c.74A>G
2 papers
NM_000398.7
p.Q28*
c.82C>T
1 paper
NM_000398.7
p.R29H
c.86G>A
1 paper
NM_000398.7
p.L23fs
c.67_68fs
1 paper
NM_000398.7
p.L22delFs
c.66delC
1 paper
NM_000398.7
p.T35P
c.103A>C
1 paper
NM_001171660.2
p.W50*
c.149G>A
1 paper
NM_000398.7
p.L36L
c.108C>T
1 paper
NM_000398.7
p.E37K
c.109G>A
1 paper
NM_000398.7
p.P39P
c.117G>A
2 papers
NM_001171660.2
p.L46F
c.136C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."