Varaico: Literature-Extracted Genetic Variants

Gene:COQ8A
Variant:p.E605_T606Fs

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.E605_T606Fs
c.1815_1816delinsCFs
Surrounding Variants
1 paper
NM_020247.5
p.E605fs
c.1813_1814fs
8 papers
NM_020247.5
p.E605insFs
c.1813dupG
2 papers
NM_020247.5
p.Y607*
c.1821C>A
2 papers
NM_020247.5
p.Y607*
c.1821C>G
2 papers
NM_020247.5
p.Y607Y
c.1821C>T
1 paper
NM_020247.5
p.P603P
c.1809C>T
1 paper
NM_020247.5
p.S608P
c.1822T>C
3 papers
NM_020247.5
p.S608F
c.1823C>T
1 paper
NM_020247.5
p.S608S
c.1824C>T
4 papers
NM_020247.5
p.P602Q
c.1805C>A
9 papers
NM_020247.5
p.P602R
c.1805C>G
5 papers
NM_020247.5
p.L609V
c.1825C>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."