Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A

COQ8A

287 papers

RefSeq Summary

This gene encodes a mitochondrial protein similar to yeast ABC1, which functions in an electron-transferring membrane protein complex in the respiratory chain. It is not related to the family of ABC t...

Pfam Domains

ABC1aa 299–541UCSCABC1 atypical kinase-like domain

Gene Aliases

HGNC Name

coenzyme Q8A

HGNC Previous Symbols

CABC1; ADCK3

Papers
RefSeq ID
Protein change
DNA change
1–12 of 391 variants
30 papers
NM_020247.5
p.R271C
c.811C>T
25 papers
NM_020247.5
p.R299W
c.895C>T
24 papers
NM_020247.5
p.A304V
c.911C>T
23 papers
NM_020247.5
p.R348*
c.1042C>T
22 papers
NM_020247.5
p.T584del1
c.1750_1751delACC
20 papers
NM_020247.5
p.E551K
c.1651G>A
19 papers
NM_020247.5
p.G272D
c.815G>A
18 papers
NM_020247.5
p.G272V
c.815G>T
18 papers
NM_020247.5
p.R301W
c.901C>T
18 papers
NM_020247.5
p.G549S
c.1645G>A
18 papers
NM_020247.5
p.G615insFs
c.1844dupG
17 papers
NM_020247.5
p.Y514C
c.1541A>G
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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."