Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.I283T

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.I283T
c.848T>C
Surrounding Variants
4 papers
NM_020247.5
p.Q279P
c.836A>C
2 papers
NM_020247.5
p.Q279E
c.835C>G
1 paper
NM_020247.5
p.G278S
c.832G>A
9 papers
NM_020247.5
p.L277P
c.830T>C
6 papers
NM_020247.5
p.K276R
c.827A>G
2 papers
NM_020247.5
p.A273V
c.818C>T
19 papers
NM_020247.5
p.G272D
c.815G>A
2 papers
NM_020247.5
p.G272A
c.815G>C
18 papers
NM_020247.5
p.G272V
c.815G>T
1 paper
NM_020247.5
p.G272S
c.814G>A
4 papers
NM_020247.5
p.G272C
c.814G>T
4 papers
NM_020247.5
p.R271H
c.812G>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."