View TIA1 gene homepage

General information
Gene symbol TIA1
Gene name TIA1 cytotoxic granule-associated RNA binding protein
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_029967.1
Transcript reference NM_022173.2
Exon/intron information NM_022173.2
Associated with diseases WDM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 1
Individuals with public variants 47
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 07, 2013
Date last updated October 24, 2015
Version TIA1:151024

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 11802
Entrez Gene 7072
PubMed articles TIA1
OMIM - Gene 603518
OMIM - Diseases WDM (myopathy, distal, Welander (WDM))
GeneCards TIA1
GeneTests TIA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00001784 2 transcript variant 2 NM_022173.2 NP_071505.2 2

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2017. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.