Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.L299L

COQ3

41 papers

RefSeq Summary

Ubiquinone, also known as coenzyme Q, or Q, is a critical component of the electron transport pathways of both eukaryotes and prokaryotes (Jonassen and Clarke, 2000 [PubMed 10777520]). This lipid cons...

Pfam Domains

Methyltransf_11aa 151–250UCSCMethyltransferase domain

Gene Aliases

HGNC Name

coenzyme Q3, methyltransferase

HGNC Alias Symbol

bA9819.1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017421.4
p.L299L
c.895C>T
Surrounding Variants
1 paper
NM_017421.4
p.G298C
c.892G>T
1 paper
NM_017421.4
p.G298R
c.892G>C
1 paper
NM_017421.4
p.V301A
c.902T>C
1 paper
NM_017421.4
p.V304L
c.910G>T
1 paper
NM_017421.4
p.V304L
c.910G>C
1 paper
NM_017421.4
p.G306R
c.916G>C
1 paper
NM_017421.4
p.G306R
c.916G>A
1 paper
NM_017421.4
p.E320K
c.958G>A
1 paper
NM_017421.4
p.A328T
c.982G>A
1 paper
NM_017421.4
p.A328D
c.983C>A
3 papers
NM_017421.4
p.Y329H
c.985T>C
1 paper
NM_017421.4
p.G348E
c.1043G>A
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