Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.S204Y

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.S204Y
c.611C>A
Surrounding Variants
3 papers
NM_017421.4
p.V202M
c.604G>A
1 paper
NM_017421.4
p.E207K
c.619G>A
1 paper
NM_017421.4
p.E207G
c.620A>G
1 paper
NM_017421.4
p.R201G
c.601A>G
1 paper
NM_017421.4
p.Y200H
c.598T>C
1 paper
NM_017421.4
p.E211G
c.632A>G
1 paper
NM_017421.4
p.T212S
c.635C>G
1 paper
NM_017421.4
p.L194L
c.580C>T
1 paper
NM_017421.4
p.L194V
c.580C>G
1 paper
NM_017421.4
p.T215A
c.643A>G
1 paper
NM_017421.4
p.V193A
c.578T>C
1 paper
NM_017421.4
p.D217H
c.649G>C
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