Varaico: Literature-Extracted Genetic Variants

Gene:COQ3

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
1–12 of 157 variants
3 papers
NM_017421.4
p.K134E
c.400A>G
3 papers
NM_017421.4
p.V202M
c.604G>A
3 papers
NM_017421.4
p.S272G
c.814A>G
3 papers
NM_017421.4
p.Y329H
c.985T>C
2 papers
NM_017421.4
p.K149R
c.446A>G
2 papers
NM_017421.4
p.D175N
c.523G>A
1 paper
NM_017421.4
p.M1V
c.1A>G
1 paper
NM_017421.4
p.M1T
c.2T>C
1 paper
NM_017421.4
p.M1I
c.3G>T
1 paper
NM_017421.4
p.K6E
c.16A>G
1 paper
NM_017421.4
p.G11A
c.32G>C
1 paper
NM_017421.4
p.W13L
c.38G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."