Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.E447insFs

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
Selected Variant
12 papers
NM_024876.4
p.E447insFs
c.1339dupG
Surrounding Variants
2 papers
NM_024876.4
p.E447K
c.1339G>A
11 papers
NM_024876.4
p.E447fs
c.1339_1340fs
1 paper
NM_024876.4
p.I444_G446insFs
c.1332_1336dup5
1 paper
NM_024876.4
p.G446R
c.1336G>C
1 paper
NM_024876.4
p.G446R
c.1336G>A
1 paper
NM_024876.4
p.L445delFs
c.1334_1335delCA
1 paper
NM_024876.4
p.A450T
c.1348G>A
1 paper
NM_024876.4
p.V442delFs
c.1326delC
5 papers
NM_024876.4
p.Q452fs
c.1354_1355fs
1 paper
NM_024876.4
p.Q452*
c.1354C>T
1 paper
NM_024876.4
p.V442M
c.1324G>A
1 paper
NM_024876.4
p.G453delFs
c.1358delC
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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."