Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.L258F

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.L258F
c.772C>T
Surrounding Variants
1 paper
NM_017421.4
p.T256I
c.767C>T
1 paper
NM_017421.4
p.N254Y
c.760A>T
1 paper
NM_017421.4
p.N254D
c.760A>G
1 paper
NM_017421.4
p.G263E
c.788G>A
1 paper
NM_017421.4
p.S247A
c.739T>G
1 paper
NM_017421.4
p.G246R
c.736G>C
1 paper
NM_017421.4
p.I270V
c.808A>G
3 papers
NM_017421.4
p.S272G
c.814A>G
1 paper
NM_017421.4
p.S272R
c.814A>C
1 paper
NM_017421.4
p.S272R
c.816T>G
1 paper
NM_017421.4
p.S272R
c.816T>A
1 paper
NM_017421.4
p.V274I
c.820G>A
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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."