Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B

COQ8B

173 papers

RefSeq Summary

This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the acti...

Pfam Domains

ABC1aa 178–420UCSCABC1 atypical kinase-like domain

Gene Aliases

HGNC Name

coenzyme Q8B

HGNC Previous Symbol

ADCK4

Papers
RefSeq ID
Protein change
DNA change
1–12 of 199 variants
28 papers
NM_024876.4
p.R178W
c.532C>T
23 papers
NM_024876.4
p.S246N
c.737G>A
19 papers
NM_024876.4
p.D250H
c.748G>C
12 papers
NM_024876.4
p.E447insFs
c.1339dupG
12 papers
NM_024876.4
p.E483*
c.1447G>T
11 papers
NM_024876.4
p.H400fs
c.1198_1199fs
11 papers
NM_024876.4
p.E447fs
c.1339_1340fs
11 papers
NM_024876.4
p.R490C
c.1468C>T
10 papers
NM_024876.4
p.H400insFs
c.1199dupA
9 papers
NM_024876.4
p.W34*
c.101G>A
9 papers
NM_024876.4
p.H174R
c.521A>G
9 papers
NM_024876.4
p.F215delFs
c.645delA
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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."