Varaico: Literature-Extracted Genetic Variants

Gene:UQCRHL
Variant:p.E6K

UQCRHL

18 papers

RefSeq Summary

This gene has characteristics of a pseudogene derived from the UQCRH gene. However, there is still an open reading frame that could produce a protein of the same or nearly the same size as that of the...

Pfam Domains

UCR_hingeaa 28–91UCSCUbiquinol-cytochrome C reductase hinge protein

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase hinge protein like

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001089591.2
p.E6K
c.16G>A
Surrounding Variants
1 paper
NM_001089591.2
p.E22G
c.65A>G
4 papers
NM_001089591.2
p.E25K
c.73G>A
1 paper
NM_001089591.2
p.D28N
c.82G>A
1 paper
NM_001089591.2
p.E38Q
c.112G>C
1 paper
NM_001089591.2
p.R49Q
c.146G>A
4 papers
NM_001089591.2
p.Y53C
c.158A>G
1 paper
NM_001089591.2
p.H56R
c.167A>G
1 paper
NM_001089591.2
p.R60Q
c.179G>A
4 papers
NM_001089591.2
p.K78R
c.233A>G
1 paper
NM_001089591.2
p.V82M
c.244G>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."