Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.R512Q

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.R512Q
c.1535G>A
Surrounding Variants
6 papers
NM_020247.5
p.R512W
c.1534C>T
9 papers
NM_020247.5
p.T511M
c.1532C>T
17 papers
NM_020247.5
p.Y514C
c.1541A>G
1 paper
NM_020247.5
p.A510V
c.1529C>T
10 papers
NM_020247.5
p.F508S
c.1523T>C
6 papers
NM_020247.5
p.D507N
c.1519G>A
2 papers
NM_020247.5
p.T519delFs
c.1555delA
3 papers
NM_020247.5
p.T519A
c.1555A>G
1 paper
NM_020247.5
p.T519fs
c.1555_1556fs
2 papers
NM_020247.5
p.A504fs
c.1510_1511fs
2 papers
NM_020247.5
p.A504delFs
c.1511_1512delCT
1 paper
NM_020247.5
p.Q524R
c.1571A>G
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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."