TUSC3 gene homepage

Euroglycanet logoCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site.
General information
Gene symbol TUSC3
Gene name tumor suppressor candidate 3
Chromosome 8
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_012141.2
Transcript reference NM_006765.3
Exon/intron information NM_006765.3 exon/intron table
Associated with diseases ID, MRT-7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Gert Matthijs
Total number of public variants reported 3
Unique public DNA variants reported 3
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 European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010

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_006765.3.
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 http://www.LOVD.nl/TUSC3
External URL Congenital Disorder of Glycosylation pages
HGNC 30242
Entrez Gene 7991
PubMed articles TUSC3
OMIM - Gene 601385
OMIM - Diseases MRT-7 (mental retardation, autosomal recessive, type 7 (MRT-7))
HGMD TUSC3
GeneCards TUSC3
GeneTests TUSC3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00022156 8 transcript variant 1 NM_006765.3 NP_006756.2 3


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