The TERC gene homepage

General information
Gene symbol TERC
Gene name telomerase RNA component
Chromosome 3
Chromosomal band q26.2
Imprinted Unknown
Genomic reference NG_016363.1
Transcript reference NR_001566.1
Associated with diseases DKCA1, PFBMFT2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 73
Unique public DNA variants reported 59
Individuals with public variants 60
Hidden variants 1
Download all this gene's data Download all data
Notes alias TR
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene.
Date created May 03, 2013
Date last updated July 07, 2023
Version TERC:230707

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 http://www.LOVD.nl/TERC
External URL The TERC (TR) Telomerase Database
HGNC 11727
Entrez Gene 7012
PubMed articles TERC
OMIM - Gene 602322
OMIM - Diseases DKCA1 (dyskeratosis congenita, autosomal dominant, type 1 (DKCA-1))
PFBMFT2 (fibrosis, pulmonary, and/or bone marrow failure, telomere-related, type 2 (PFBMFT-2))
HGMD TERC
GeneCards TERC
GeneTests TERC
Orphanet TERC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00020977 3 telomerase RNA component NR_001566.1 - 73


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