Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.A304V

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
24 papers
NM_020247.5
p.A304V
c.911C>T
Surrounding Variants
11 papers
NM_020247.5
p.A304T
c.910G>A
4 papers
NM_020247.5
p.D305Y
c.913G>T
1 paper
NM_020247.5
p.D305V
c.914A>T
1 paper
NM_020247.5
p.Q302_S303insFs
c.906_907insA
1 paper
NM_020247.5
p.Q302fs
c.904_905fs
5 papers
NM_020247.5
p.R301Q
c.902G>A
1 paper
NM_020247.5
p.R301L
c.902G>T
18 papers
NM_020247.5
p.R301W
c.901C>T
1 paper
NM_020247.5
p.L309P
c.926T>C
25 papers
NM_020247.5
p.R299W
c.895C>T
1 paper
NM_020247.5
p.E298K
c.892G>A
2 papers
NM_020247.5
p.M313_K314Splc
c.939+1G>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."