Varaico: Literature-Extracted Genetic Variants

Gene:COQ3
Variant:p.D175G

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.D175G
c.524A>G
Surrounding Variants
2 papers
NM_017421.4
p.D175N
c.523G>A
1 paper
NM_017421.4
p.I172S
c.515T>G
1 paper
NM_017421.4
p.E179K
c.535G>A
1 paper
NM_017421.4
p.V171L
c.511G>C
1 paper
NM_017421.4
p.V171I
c.511G>A
1 paper
NM_017421.4
p.I181N
c.542T>A
1 paper
NM_017421.4
p.G168E
c.503G>A
1 paper
NM_017421.4
p.K182R
c.545A>G
1 paper
NM_017421.4
p.G168R
c.502G>C
1 paper
NM_017421.4
p.G168R
c.502G>A
1 paper
NM_017421.4
p.L167F
c.499C>T
1 paper
NM_017421.4
p.K188R
c.563A>G
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