UQCRB gene homepage

General information
Gene symbol UQCRB
Gene name ubiquinol-cytochrome c reductase binding protein
Chromosome 8
Chromosomal band q22
Imprinted Unknown
Genomic reference NG_008237.1
Transcript reference NM_006294.4
Exon/intron information NM_006294.4 exon/intron table
Associated with diseases MC3DN, MC3DN-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 4
Unique public DNA variants reported 4
Individuals with public variants 1
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated December 22, 2017
Version UQCRB:171222

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006294.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/UQCRB
HGNC 12582
Entrez Gene 7381
PubMed articles UQCRB
OMIM - Gene 191330
OMIM - Diseases MC3DN-3 (mitochondrial complex III deficiency, nuclear type 3 (MC3DN-3))
GeneCards UQCRB
GeneTests UQCRB

Active transcripts




NCBI ID     

NCBI Protein ID     

00022419 8 transcript variant 1 NM_006294.4 NP_006285.1 4

Copyright & disclaimer
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