Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.L320delFs

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
1 paper
NM_020247.5
p.L320delFs
c.960delG
Surrounding Variants
1 paper
NM_020247.5
p.L320fs
c.958_959fs
1 paper
NM_020247.5
p.D319D
c.957C>T
1 paper
NM_020247.5
p.D319A
c.956A>C
1 paper
NM_020247.5
p.P322insFs
c.965_966insC
1 paper
NM_020247.5
p.N318S
c.953A>G
1 paper
NM_020247.5
p.N318H
c.952A>C
3 papers
NM_020247.5
p.L316L
c.948C>T
1 paper
NM_020247.5
p.L316V
c.946C>G
1 paper
NM_020247.5
p.R325Q
c.974G>A
3 papers
NM_020247.5
p.D326N
c.976G>A
1 paper
NM_020247.5
p.Y330C
c.989A>G
1 paper
NM_020247.5
p.F331L
c.991T>C
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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."