Varaico: Literature-Extracted Genetic Variants

Gene:UQCRB
Variant:p.K103_R105delFs

UQCRB

37 papers

RefSeq Summary

This gene encodes a subunit of the ubiquinol-cytochrome c oxidoreductase complex, which consists of one mitochondrial-encoded and 10 nuclear-encoded subunits. The protein encoded by this gene binds ub...

Pfam Domains

UCR_14kDaa 8–106UCSCUbiquinol-cytochrome C reductase complex 14kD subunit

Gene Aliases

HGNC Name

ubiquinol-cytochrome c reductase binding protein

HGNC Previous Symbol

UQBP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_006294.5
p.K103_R105delFs
c.309_313del5
Surrounding Variants
1 paper
NM_006294.5
p.R105fs
c.313_314fs
2 papers
NM_006294.5
p.R105fs
c.313_314fs
1 paper
NM_006294.5
p.E106K
c.316G>A
1 paper
NM_006294.5
p.E104fs
c.310_311fs
3 papers
NM_006294.5
p.R102_K103delFs
c.306_309del4
1 paper
NM_006294.5
p.E104fs
c.310_311fs
1 paper
NM_006294.5
p.E86_E87Splc
c.259-93G>C
1 paper
NM_006294.5
p.L69L
c.207G>T
2 papers
NM_006294.5
p.L67Q
c.200T>A
1 paper
NM_006294.5
p.R50*
c.148A>T
1 paper
NM_006294.5
p.R49K
c.146G>A
2 papers
NM_006294.5
p.I38L
c.112A>T
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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."