Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.I402T

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.I402T
c.1205T>C
Surrounding Variants
1 paper
NM_024876.4
p.I402I
c.1206C>T
1 paper
NM_024876.4
p.E403E
c.1209G>A
10 papers
NM_024876.4
p.H400insFs
c.1199dupA
11 papers
NM_024876.4
p.H400fs
c.1198_1199fs
1 paper
NM_024876.4
p.E396G
c.1187A>G
1 paper
NM_024876.4
p.G394E
c.1181G>A
1 paper
NM_024876.4
p.G388A
c.1163G>C
1 paper
NM_024876.4
p.D386N
c.1156G>A
1 paper
NM_024876.4
p.E403_V404Splc
c.1210-10G>A
1 paper
NM_024876.4
p.A409T
c.1225G>A
1 paper
NM_024876.4
p.D414G
c.1241A>G
1 paper
NM_024876.4
p.K419E
c.1255A>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."