The TGFBR2 gene homepage

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_003242.5
Associated with diseases cancer, esophageal, HNPCC, HNPCC6, LDS, LDS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 171
Unique public DNA variants reported 116
Individuals with public variants 111
Hidden variants 6
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 November 27, 2023
Version TGFBR2:231127

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
Homepage URL
HGNC 11773
Entrez Gene 7048
PubMed articles TGFBR2
OMIM - Gene 190182
OMIM - Diseases cancer, esophageal
HNPCC6 (cancer, colorectal, nonpolyposis, hereditary, type 6 (HNPCC-6))
LDS2 (Loeys-Dietz syndrome, type 2 (LDS-2))
GeneCards TGFBR2
GeneTests TGFBR2
Orphanet TGFBR2

Active transcripts




NCBI ID     

NCBI Protein ID     

00025742 3 transcript variant 2 NM_003242.5 NP_003233.4 171

Copyright & disclaimer
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