The MTOR gene homepage

General information
Gene symbol MTOR
Gene name mechanistic target of rapamycin (serine/threonine kinase)
Chromosome 1
Chromosomal band p36
Imprinted Unknown
Genomic reference NG_033239.1
Transcript reference NM_004958.3
Exon/intron information NM_004958.3 exon/intron table
Associated with diseases FCORD2, SKS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 147
Unique public DNA variants reported 110
Individuals with public variants 13
Hidden variants 12
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 September 13, 2012
Date last updated May 09, 2022
Version MTOR:220509

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_004958.3.
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 https://www.LOVD.nl/MTOR
HGNC 3942
Entrez Gene 2475
PubMed articles MTOR
OMIM - Gene 601231
OMIM - Diseases FCORD2 (dysplasia, cortical, focal type II (FCORD-2))
SKS (Smith-Kingsmore syndrome (SKS))
HGMD MTOR
GeneCards MTOR
GeneTests MTOR
Orphanet MTOR


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000842 1 mechanistic target of rapamycin (serine/threonine kinase) NM_004958.3 NP_004949.1 147


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