Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.T584del1

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
22 papers
NM_020247.5
p.T584del1
c.1750_1751delACC
Surrounding Variants
3 papers
NM_020247.5
p.S582fs
c.1744_1745fs
1 paper
NM_020247.5
p.T583delFs
c.1748delC
5 papers
NM_020247.5
p.S582insFs
c.1744dupA
1 paper
NM_020247.5
p.Q581insFs
c.1742dupA
1 paper
NM_020247.5
p.Q581fs
c.1741_1742fs
1 paper
NM_020247.5
p.T584fs
c.1750_1751fs
1 paper
NM_020247.5
p.T584I
c.1751C>T
2 papers
NM_020247.5
p.E585Q
c.1753G>C
8 papers
NM_020247.5
p.F578V
c.1732T>G
1 paper
NM_020247.5
p.I591I
c.1773T>C
4 papers
NM_020247.5
p.S572S
c.1716T>C
1 paper
NM_020247.5
p.S572C
c.1715C>G
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