Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.R348*

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
Selected Variant
23 papers
NM_020247.5
p.R348*
c.1042C>T
Surrounding Variants
1 paper
NM_020247.5
p.G351G
c.1053C>T
2 papers
NM_020247.5
p.V344M
c.1030G>A
2 papers
NM_020247.5
p.Q343H
c.1029G>C
2 papers
NM_020247.5
p.Q343H
c.1029G>T
2 papers
NM_020247.5
p.Q343_V344delins
c.1029_1030delinsCA
6 papers
NM_020247.5
p.Q343R
c.1028A>G
3 papers
NM_020247.5
p.Q343*
c.1027C>T
1 paper
NM_020247.5
p.R353L
c.1058G>T
1 paper
NM_020247.5
p.E354K
c.1060G>A
3 papers
NM_020247.5
p.G342W
c.1024G>T
2 papers
NM_020247.5
p.I341T
c.1022T>C
1 paper
NM_020247.5
p.I341V
c.1021A>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."