Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.F299del1

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
5 papers
NM_000398.7
p.F299del1
c.895_896delGAA
Surrounding Variants
4 papers
NM_000398.7
p.R297H
c.890G>A
1 paper
NM_000398.7
p.*302W
c.906A>G
2 papers
NM_000398.7
p.T295del1
c.883_884delCGT
1 paper
NM_000398.7
p.T295fs
c.883_884fs
1 paper
NM_000398.7
p.T295Fs
c.884delinsAAFs
3 papers
NM_000398.7
p.P294_T295Fs
c.882_884delinsAAFs
1 paper
NM_000398.7
p.H293R
c.878A>G
5 papers
NM_000398.7
p.G292D
c.875G>A
1 paper
NM_000398.7
p.V291V
c.873G>A
1 paper
NM_000398.7
p.V291M
c.871G>A
1 paper
NM_000398.7
p.C284Y
c.851G>A
4 papers
NM_000398.7
p.P276L
c.827C>T
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