Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.R626C

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.R626C
c.1876C>T
Surrounding Variants
1 paper
NM_020247.5
p.C629_K630del2
c.1885_1889del6
1 paper
NM_020247.5
p.L623ins0
c.1867_1869dupCTG
1 paper
NM_020247.5
p.E635del1
c.1903_1904delGAG
1 paper
NM_020247.5
p.E634K
c.1900G>A
4 papers
NM_020247.5
p.S616fs
c.1846_1847fs
8 papers
NM_020247.5
p.S616fs
c.1846_1847fs
13 papers
NM_020247.5
p.G615D
c.1844G>A
2 papers
NM_020247.5
p.S638S
c.1914C>T
18 papers
NM_020247.5
p.G615insFs
c.1844dupG
2 papers
NM_020247.5
p.R611K
c.1832G>A
1 paper
NM_020247.5
p.R611delFs
c.1833delG
1 paper
NM_020247.5
p.L609P
c.1826T>C
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