View TGFBR2 gene homepage - Loeys-Dietz Syndrome Mutation Database

Loeys-Dietz Syndrome Mutation Database

transforming growth factor, beta receptor II (70/80kDa) (TGFBR2)

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Curators: Bart Loeys, Bart Loeys and Giada Tortora

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General information
Gene symbol	TGFBR2
Gene name	transforming growth factor, beta receptor II (70/80kDa)
Chromosome	3
Chromosomal band	p22
Imprinted	Unknown
Genomic reference	NG_007490.1
Transcript reference	NM_001024847.2, NM_003242.5
Associated with diseases	LDS2
Citation reference(s)	-
Curators (3)	Bart Loeys, Bart Loeys and Giada Tortora
Total number of public variants reported	251
Unique public DNA variants reported	122
Individuals with public variants	250
Hidden variants	0
Date created	February 19, 2014
Date last updated	April 16, 2018
Version	TGFBR2:180416

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	11773
Entrez Gene	7048
PubMed articles	TGFBR2
OMIM - Gene	190182
OMIM - Diseases	LDS2 (Loeys-Dietz syndrome, type 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
00000004	3	transcript variant 2	NM_003242.5	NP_003233.4	243
00000003	3	transcript variant 1	NM_001024847.2	NP_001020018.1	15

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