TINF2 gene homepage

General information
Gene symbol TINF2
Gene name TERF1 (TRF1)-interacting nuclear factor 2
Chromosome 14
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_016650.1
Transcript reference NM_001099274.1
Exon/intron information NM_001099274.1 exon/intron table
Associated with diseases DKCA-3, Revesz
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 28
Unique public DNA variants reported 27
Individuals with public variants 28
Hidden variants 0
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. As a start data were copied from the Telomerase Database TERC (TR) gene.
Date created May 03, 2013
Date last updated February 28, 2017
Version TINF2:170228

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001099274.1.
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/TINF2
External URL The TINF2 Telomerase Database
HGNC 11824
Entrez Gene 26277
PubMed articles TINF2
OMIM - Gene 604319
OMIM - Diseases DKCA-3 (dyskeratosis congenita, autosomal dominant, type 3 (DKCA-3))
Revesz (Revesz syndrome)
HGMD TINF2
GeneCards TINF2
GeneTests TINF2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021156 14 transcript variant 1 NM_001099274.1 NP_001092744.1 28


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