Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.S54R

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.S54R
c.162C>G
Surrounding Variants
4 papers
NM_000398.7
p.S54R
c.162C>A
4 papers
NM_000398.7
p.S54R
c.160A>C
3 papers
NM_000398.7
p.R58W
c.172C>T
7 papers
NM_000398.7
p.R58P
c.173G>C
NM_007326.4
p.R35P
c.104G>C
9 papers
NM_000398.7
p.R58Q
c.173G>A
1 paper
NM_000398.7
p.R59C
c.175C>T
3 papers
NM_000398.7
p.R59H
c.176G>A
2 papers
NM_000398.7
p.R61C
c.181C>T
1 paper
NM_000398.7
p.R61L
c.182G>T
1 paper
NM_000398.7
p.R61P
c.182G>C
2 papers
NM_000398.7
p.L64V
c.190C>G
5 papers
NM_000398.7
p.P65L
c.194C>T
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