Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.F331L

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.F331L
c.991T>C
Surrounding Variants
1 paper
NM_020247.5
p.Y330C
c.989A>G
1 paper
NM_020247.5
p.F331L
c.993C>A
1 paper
NM_020247.5
p.F331L
c.993C>G
15 papers
NM_020247.5
p.F331F
c.993C>T
4 papers
NM_020247.5
p.R334W
c.1000C>T
1 paper
NM_020247.5
p.P335S
c.1003C>T
3 papers
NM_020247.5
p.D326N
c.976G>A
1 paper
NM_020247.5
p.R325Q
c.974G>A
4 papers
NM_020247.5
p.A337T
c.1009G>A
2 papers
NM_020247.5
p.A337G
c.1010C>G
5 papers
NM_020247.5
p.A338T
c.1012G>A
4 papers
NM_020247.5
p.A338V
c.1013C>T
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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."