Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.E568delFs

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
2 papers
NM_020247.5
p.E568delFs
c.1702delG
Surrounding Variants
1 paper
NM_020247.5
p.L566_E568delFs
c.1696_1703del8
5 papers
NM_020247.5
p.E568*
c.1702G>T
1 paper
NM_020247.5
p.A562A
c.1686C>T
1 paper
NM_020247.5
p.A571T
c.1711G>A
1 paper
NM_020247.5
p.A571A
c.1713C>A
1 paper
NM_020247.5
p.S572C
c.1715C>G
1 paper
NM_020247.5
p.L560S
c.1679T>C
4 papers
NM_020247.5
p.S572S
c.1716T>C
3 papers
NM_020247.5
p.H559Q
c.1677C>A
3 papers
NM_020247.5
p.H559Q
c.1677C>G
10 papers
NM_020247.5
p.M555I
c.1665G>A
8 papers
NM_020247.5
p.M555I
c.1665G>C
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