The UQCRC2 gene homepage

General information
Gene symbol UQCRC2
Gene name ubiquinol-cytochrome c reductase core protein II
Chromosome 16
Chromosomal band p12
Imprinted Unknown
Genomic reference NC_000016.9
Transcript reference NM_003366.2
Exon/intron information NM_003366.2 exon/intron table
Associated with diseases MC3DN, MC3DN-5
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 7
Unique public DNA variants reported 6
Individuals with public variants 71
Hidden variants 1
Date created October 01, 2012
Date last updated September 25, 2020
Version UQCRC2:200925

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_003366.2.
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
HGNC 12586
Entrez Gene 7385
PubMed articles UQCRC2
OMIM - Gene 191329
OMIM - Diseases MC3DN-5 (mitochondrial complex III deficiency, nuclear type 5 (MC3DN-5))
HGMD UQCRC2
GeneCards UQCRC2
GeneTests UQCRC2
Orphanet UQCRC2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001720 16 ubiquinol-cytochrome c reductase core protein II NM_003366.2 NP_003357.2 7


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