Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.D526D

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.D526D
c.1578C>T
Surrounding Variants
2 papers
NM_024876.4
p.W520*
c.1560G>A
2 papers
NM_024876.4
p.W520*
c.1559G>A
1 paper
NM_024876.4
p.D514N
c.1540G>A
1 paper
NM_024876.4
p.L511F
c.1531C>T
1 paper
NM_024876.4
p.L511V
c.1531C>G
1 paper
NM_024876.4
p.A500_R503delFs
c.1500_1507del8
11 papers
NM_024876.4
p.R490C
c.1468C>T
6 papers
NM_024876.4
p.H489Y
c.1465C>T
2 papers
NM_024876.4
p.A487G
c.1460C>G
1 paper
NM_024876.4
p.E484K
c.1450G>A
12 papers
NM_024876.4
p.E483*
c.1447G>T
1 paper
NM_024876.4
p.E483K
c.1447G>A
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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."