Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.E238Q

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.E238Q
c.712G>C
Surrounding Variants
1 paper
NM_016035.5
p.E238*
c.712G>T
36 papers
NM_016035.5
p.R240C
c.718C>T
4 papers
NM_016035.5
p.R240H
c.719G>A
1 paper
NM_016035.5
p.L233V
c.697C>G
1 paper
NM_016035.5
p.S244T
c.730T>A
1 paper
NM_016035.5
p.C231Y
c.692G>A
1 paper
NM_016035.5
p.R246K
c.737G>A
2 papers
NM_016035.5
p.L248P
c.743T>C
4 papers
NM_016035.5
p.R249W
c.745C>T
1 paper
NM_016035.5
p.E250Q
c.748G>C
1 paper
NM_016035.5
p.A256V
c.767C>T
1 paper
NM_016035.5
p.L218delFs
c.653delT
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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."