Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.G171E

COQ4

143 papers

RefSeq Summary

This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of...

Pfam Domains

Coq4aa 38–258UCSCCoenzyme Q (ubiquinone) biosynthesis protein Coq4

Gene Aliases

HGNC Name

coenzyme Q4

HGNC Alias Symbol

CGI-92

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016035.5
p.G171E
c.512G>A
Surrounding Variants
10 papers
NM_016035.5
p.T174_N175del1
c.521_523delCCA
3 papers
NM_016035.5
p.G178E
c.533G>A
1 paper
NM_016035.5
p.D164N
c.490G>A
1 paper
NM_016035.5
p.G178Splc
c.532+6T>A
15 papers
NM_016035.5
p.E161D
c.483G>C
12 papers
NM_016035.5
p.E161D
c.483G>T
1 paper
NM_016035.5
p.R160Q
c.479G>A
1 paper
NM_016035.5
p.Y159C
c.476A>G
11 papers
NM_016035.5
p.R158Q
c.473G>A
2 papers
NM_016035.5
p.R158W
c.472C>T
4 papers
NM_016035.5
p.Q157K
c.469C>A
1 paper
NM_016035.5
p.Y154F
c.461A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."