Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.H364L

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.H364L
c.1091A>T
Surrounding Variants
1 paper
NM_017421.4
p.E365D
c.1095A>T
1 paper
NM_017421.4
p.E365D
c.1095A>C
1 paper
NM_017421.4
p.K366fs
c.1096_1097fs
1 paper
NM_017421.4
p.A362V
c.1085C>T
1 paper
NM_017421.4
p.A362S
c.1084G>T
1 paper
NM_017421.4
p.K366delFs
c.1097delT
1 paper
NM_017421.4
p.N360S
c.1079A>G
1 paper
NM_017421.4
p.V363_*370delFs
c.1089_1110del22
1 paper
NM_017421.4
p.G348E
c.1043G>A
3 papers
NM_017421.4
p.Y329H
c.985T>C
1 paper
NM_017421.4
p.A328D
c.983C>A
1 paper
NM_017421.4
p.A328T
c.982G>A
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