Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.Q222*

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.Q222*
c.664C>T
Surrounding Variants
1 paper
NM_024876.4
p.G221G
c.663G>T
1 paper
NM_024876.4
p.G221G
c.663G>A
5 papers
NM_024876.4
p.A217T
c.649G>A
1 paper
NM_024876.4
p.A216A
c.648C>T
9 papers
NM_024876.4
p.F215delFs
c.645delA
1 paper
NM_024876.4
p.F215fs
c.643_644fs
4 papers
NM_024876.4
p.F215fs
c.643_644fs
1 paper
NM_024876.4
p.R229K
c.686G>A
1 paper
NM_024876.4
p.V213delFs
c.639delC
1 paper
NM_024876.4
p.T232A
c.694A>G
1 paper
NM_024876.4
p.S209F
c.626C>T
1 paper
NM_024876.4
p.V236M
c.706G>A
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