Varaico: Literature-Extracted Genetic Variants

Gene:CYB5D1

CYB5D1

14 papers

Pfam Domains

Cyt-b5aa 21–87UCSCCytochrome b5-like Heme/Steroid binding domain

Gene Aliases

HGNC Name

cytochrome b5 domain containing 1

HGNC Alias Symbol

FLJ32499

Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
3 papers
NM_144607.6
p.F20L
c.58T>C
3 papers
NM_144607.6
p.F20L
c.60C>A
3 papers
NM_144607.6
p.F20L
c.60C>G
2 papers
NM_144607.6
p.*229Q
c.685T>C
1 paper
NM_144607.6
p.V36_G40del0
c.107_118del12
1 paper
NM_144607.6
p.R92W
c.274A>T
1 paper
NM_144607.6
p.Q106*
c.316C>T
1 paper
NM_144607.6
p.L107_K118del12
c.319_353del36
1 paper
NM_144607.6
p.L107_K118del0
c.321_353del33
1 paper
NM_144607.6
p.L206F
c.616C>T
1 paper
NM_144607.6
p.P215S
c.643C>T
1 paper
NM_144607.6
p.A216V
c.647C>T
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