TSC2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

TSC2 (TSC complex subunit 2)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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	927
Unique public DNA variants reported	329
Individuals with public variants	953
Hidden variants	0
Date created	May 20, 2020
Date last updated	May 16, 2022
Version	TSC2:220516

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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000231	16	tuberous sclerosis 2, transcript variant 1	NM_000548.3	NP_000539.2	927
00000232	16	tuberous sclerosis 2, transcript variant 4	NM_001077183.1	NP_001070651.1	927
00000233	16	tuberous sclerosis 2, transcript variant 5	NM_001114382.1	NP_001107854.1	927

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