Varaico: Literature-Extracted Genetic Variants

Gene:CYB5D2
Variant:p.E140D

CYB5D2

14 papers

Pfam Domains

Cyt-b5aa 40–134UCSCCytochrome b5-like Heme/Steroid binding domain
Cyt-b5aa 40–134UCSCCytochrome b5-like Heme/Steroid binding domain

Gene Aliases

HGNC Name

cytochrome b5 domain containing 2

HGNC Alias Symbol

MGC32124

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_144611.4
p.E140D
c.420G>T
Surrounding Variants
1 paper
NM_144611.4
p.E140D
c.420G>C
1 paper
NM_144611.4
p.G139R
c.415G>C
1 paper
NM_144611.4
p.P174L
c.521C>T
1 paper
NM_144611.4
p.N176S
c.527A>G
2 papers
NM_144611.4
p.V218M
c.652G>A
1 paper
NM_144611.4
p.P226A
c.676C>G
1 paper
NM_144611.4
p.L116H
c.347T>A
1 paper
NM_144611.4
p.E112D
c.336G>C
1 paper
NM_144611.4
p.E112D
c.336G>T
1 paper
NM_144611.4
p.A87T
c.259G>A
1 paper
NM_144611.4
p.D86G
c.257A>G
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