Varaico: Literature-Extracted Genetic Variants

Gene:CYB5R3
Variant:p.T202A

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
2 papers
NM_000398.7
p.T202A
c.604A>G
Surrounding Variants
1 paper
NM_000398.7
p.T202S
c.604A>T
1 paper
NM_000398.7
p.T202P
c.604A>C
1 paper
NM_000398.7
p.T202S
c.605C>G
12 papers
NM_000398.7
p.C204R
c.610T>C
11 papers
NM_000398.7
p.C204Y
c.611G>A
1 paper
NM_000398.7
p.T202_V203delFs
c.606_607delCA
1 paper
NM_000398.7
p.A209T
c.625G>A
7 papers
NM_000398.7
p.I194L
c.580A>C
1 paper
NM_000398.7
p.R192R
c.576C>T
6 papers
NM_000398.7
p.R192C
c.574C>T
1 paper
NM_001171660.2
p.I224F
c.670A>T
4 papers
NM_000398.7
p.L188del1
c.562_563delCAG
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