Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.R92W

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
4 papers
NM_000398.7
p.R92W
c.274C>T
Surrounding Variants
1 paper
NM_000398.7
p.V90V
c.270C>T
2 papers
NM_000398.7
p.P93H
c.278C>A
1 paper
NM_000398.7
p.Y94C
c.281A>G
4 papers
NM_000398.7
p.P96H
c.287C>A
1 paper
NM_000398.7
p.S98C
c.293C>G
2 papers
NM_000398.7
p.I85S
c.254T>G
2 papers
NM_000398.7
p.R84L
c.251G>T
NM_007326.4
p.R61L
c.182G>T
1 paper
NM_007326.4
p.R61P
c.182G>C
7 papers
NM_000398.7
p.R84*
c.250C>T
1 paper
NM_000398.7
p.A83T
c.247G>A
3 papers
NM_000398.7
p.G104C
c.310G>T
1 paper
NM_000398.7
p.F105L
c.313T>C
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