TSC2 gene homepage

General information
Gene symbol TSC2
Gene name TSC complex subunit 2
Chromosome 16
Chromosomal band p13.3
Imprinted Unknown
Genomic reference LRG_487
Transcript reference NM_000548.3, NM_001077183.1, NM_001114382.1
Associated with diseases LAM, TSC2
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 898
Unique public DNA variants reported 322
Individuals with public variants 926
Hidden variants 0
Date created May 20, 2020
Date last updated September 17, 2020
Version TSC2:200917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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 12363
Entrez Gene 7249
PubMed articles TSC2
OMIM - Gene 191092
OMIM - Diseases LAM (Lymphangioleiomyomatosis)
TSC2 (Tuberous sclerosis-2)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000231 16 tuberous sclerosis 2, transcript variant 1 NM_000548.3 NP_000539.2 898
00000232 16 tuberous sclerosis 2, transcript variant 4 NM_001077183.1 NP_001070651.1 898
00000233 16 tuberous sclerosis 2, transcript variant 5 NM_001114382.1 NP_001107854.1 898


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