Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.P276S

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.P276S
c.826C>T
Surrounding Variants
4 papers
NM_000398.7
p.P276L
c.827C>T
1 paper
NM_000398.7
p.G275insFs
c.824_825insC
1 paper
NM_000398.7
p.C274Y
c.821G>A
7 papers
NM_000398.7
p.M273del1
c.817_818delCAT
1 paper
NM_000398.7
p.L272P
c.815T>C
1 paper
NM_000398.7
p.V271_L272Fs
c.813_815delinsAAFs
6 papers
NM_000398.7
p.P269L
c.806C>T
1 paper
NM_000398.7
p.C284Y
c.851G>A
1 paper
NM_007326.4
p.E244K
c.730G>A
1 paper
NM_000398.7
p.P264L
c.791C>T
1 paper
NM_000398.7
p.V291M
c.871G>A
1 paper
NM_000398.7
p.V291V
c.873G>A
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