Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.V224F

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.V224F
c.670G>T
Surrounding Variants
1 paper
NM_017421.4
p.E223K
c.667G>A
1 paper
NM_017421.4
p.S222F
c.665C>T
1 paper
NM_017421.4
p.E226K
c.676G>A
1 paper
NM_017421.4
p.H227Y
c.679C>T
1 paper
NM_017421.4
p.D230H
c.688G>C
1 paper
NM_017421.4
p.D217E
c.651T>G
1 paper
NM_017421.4
p.D217A
c.650A>C
1 paper
NM_017421.4
p.D217H
c.649G>C
1 paper
NM_017421.4
p.T215A
c.643A>G
1 paper
NM_017421.4
p.T212S
c.635C>G
1 paper
NM_017421.4
p.E211G
c.632A>G
1 paper
NM_017421.4
p.Q240*
c.718C>T
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