Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.T12delFs

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.T12delFs
c.35delG
Surrounding Variants
1 paper
NM_024876.4
p.T12fs
c.34_35fs
1 paper
NM_024876.4
p.G11delFs
c.33delC
1 paper
NM_024876.4
p.G14G
c.42A>C
1 paper
NM_024876.4
p.L9F
c.25C>T
1 paper
NM_024876.4
p.L3L
c.9G>A
1 paper
NM_024876.4
p.L3insFs
c.7dupC
1 paper
NM_024876.4
p.W2*
c.5G>A
1 paper
NM_024876.4
p.M1I
c.3G>T
1 paper
NM_024876.4
p.M1T
c.2T>C
1 paper
NM_024876.4
p.C24delFs
c.72delA
9 papers
NM_024876.4
p.W34*
c.101G>A
6 papers
NM_024876.4
p.W34*
c.102G>A
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