Varaico: Literature-Extracted Genetic Variants

Gene:COQ8B
Variant:p.H174R

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
9 papers
NM_024876.4
p.H174R
c.521A>G
Surrounding Variants
1 paper
NM_024876.4
p.F167_H174Fs
c.500_521delinsTTGFs
1 paper
NM_024876.4
p.H174Y
c.520C>T
28 papers
NM_024876.4
p.R178W
c.532C>T
1 paper
NM_024876.4
p.R178R
c.534G>A
2 papers
NM_024876.4
p.R180C
c.538C>T
2 papers
NM_024876.4
p.F167L
c.501C>G
2 papers
NM_024876.4
p.F167L
c.501C>A
2 papers
NM_024876.4
p.F167L
c.499T>C
1 paper
NM_024876.4
p.S166R
c.498C>G
1 paper
NM_024876.4
p.S166R
c.498C>A
1 paper
NM_024876.4
p.S166I
c.497G>T
1 paper
NM_024876.4
p.S166R
c.496A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."