Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.I243delFs

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.I243delFs
c.728_729delTA
Surrounding Variants
1 paper
NM_024876.4
p.I243fs
c.727_728fs
1 paper
NM_024876.4
p.G242_Q245delFs
c.726_735del10
23 papers
NM_024876.4
p.S246N
c.737G>A
3 papers
NM_024876.4
p.D250Y
c.748G>T
19 papers
NM_024876.4
p.D250H
c.748G>C
6 papers
NM_024876.4
p.D250N
c.748G>A
1 paper
NM_024876.4
p.D250G
c.749A>G
1 paper
NM_024876.4
p.Q239_Y240Splc
c.718-8C>G
2 papers
NM_024876.4
p.N253K
c.759C>G
3 papers
NM_024876.4
p.N253K
c.759C>A
1 paper
NM_024876.4
p.A256E
c.767C>A
1 paper
NM_024876.4
p.A256A
c.768G>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."