Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.L146W

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.L146W
c.437T>G
Surrounding Variants
1 paper
NM_017421.4
p.L145S
c.434T>C
1 paper
NM_017421.4
p.M148I
c.444G>T
1 paper
NM_017421.4
p.M148I
c.444G>C
1 paper
NM_017421.4
p.M148I
c.444G>A
2 papers
NM_017421.4
p.K149R
c.446A>G
1 paper
NM_017421.4
p.I150T
c.449T>C
1 paper
NM_017421.4
p.G142R
c.424G>A
1 paper
NM_017421.4
p.L151V
c.451C>G
1 paper
NM_017421.4
p.D152N
c.454G>A
1 paper
NM_017421.4
p.D152G
c.455A>G
1 paper
NM_017421.4
p.V153I
c.457G>A
1 paper
NM_017421.4
p.G156C
c.466G>T
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