Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.A409T

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
1 paper
NM_024876.4
p.A409T
c.1225G>A
Surrounding Variants
1 paper
NM_024876.4
p.D414G
c.1241A>G
1 paper
NM_024876.4
p.E403_V404Splc
c.1210-10G>A
1 paper
NM_024876.4
p.K419E
c.1255A>G
1 paper
NM_024876.4
p.E430fs
c.1288_1289fs
1 paper
NM_024876.4
p.K432_A433Splc
c.1297-13C>T
1 paper
NM_024876.4
p.K432_A433Splc
c.1297-2A>G
1 paper
NM_024876.4
p.S435S
c.1305C>T
1 paper
NM_024876.4
p.H438H
c.1314C>T
1 paper
NM_024876.4
p.E440Q
c.1318G>C
1 paper
NM_024876.4
p.V442M
c.1324G>A
1 paper
NM_024876.4
p.V442delFs
c.1326delC
1 paper
NM_024876.4
p.G446R
c.1336G>C
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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."