Varaico: Literature-Extracted Genetic Variants

Gene:COQ4
Variant:p.I204T

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.I204T
c.611T>C
Surrounding Variants
3 papers
NM_016035.5
p.R205*
c.613C>T
1 paper
NM_016035.5
p.R205Q
c.614G>A
1 paper
NM_016035.5
p.G202_P203insA
c.604_608ins3
1 paper
NM_016035.5
p.Q209E
c.625C>G
10 papers
NM_016035.5
p.P193S
c.577C>T
1 paper
NM_016035.5
p.G191ins1
c.572_573insAAA
1 paper
NM_016035.5
p.Q189H
c.567G>C
1 paper
NM_016035.5
p.Q189H
c.567G>T
10 papers
NM_016035.5
p.W184R
c.550T>A
13 papers
NM_016035.5
p.W184R
c.550T>C
1 paper
NM_016035.5
p.I180T
c.539T>C
1 paper
NM_016035.5
p.E179K
c.535G>A
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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."