TREX1 gene homepage

General information
Gene symbol TREX1
Gene name three prime repair exonuclease 1
Chromosome 3
Chromosomal band p21.31
Imprinted Unknown
Genomic reference NG_009820.2
Transcript reference NM_016381.4, NM_033629.3
Exon/intron information NM_016381.4 exon/intron table, NM_033629.3 exon/intron table
Associated with diseases AGS-1, ID, SLE, Chilblain lupus, Vasculopathy, retinal, with cerebral leukodystrophy
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Boukje de Vries
Total number of public variants reported 140
Unique public DNA variants reported 98
Individuals with public variants 111
Hidden variants 20
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 June 06, 2008
Date last updated June 15, 2020
Version TREX1:200615

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_016381.4, NM_033629.3.
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
External URL Orphanet
HGNC 12269
Entrez Gene 11277
PubMed articles TREX1
OMIM - Gene 606609
OMIM - Diseases AGS-1 (Aicardi-Goutieres syndrome, type 1, dominant and recessive (AGS-1))
SLE (lupus erythematosus, systemic, susceptibility to (SLE))
Chilblain lupus
Vasculopathy, retinal, with cerebral leukodystrophy
GeneCards TREX1
GeneTests TREX1

Active transcripts




NCBI ID     

NCBI Protein ID     

00024308 3 transcript variant 4 NM_033629.3 NP_338599.1 140
00021780 3 transcript variant 1 NM_016381.4 NP_057465.1 137

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 © 2008-2020. 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.

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