TOR1AIP1 gene homepage

General information
Gene symbol TOR1AIP1
Gene name torsin A interacting protein 1
Chromosome 1
Chromosomal band q24.2
Imprinted Unknown
Genomic reference NG_042316.1
Transcript reference NM_001267578.1
Exon/intron information NM_001267578.1 exon/intron table
Associated with diseases LGMD-2Y
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 22
Unique public DNA variants reported 21
Individuals with public variants 13
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.
Date created May 03, 2013
Date last updated October 11, 2019
Version TOR1AIP1:191011

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_001267578.1.
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 https://www.LOVD.nl/TOR1AIP1
HGNC 29456
Entrez Gene 26092
PubMed articles TOR1AIP1
OMIM - Gene 614512
OMIM - Diseases LGMD-2Y (dystrophy, muscular, limb-girdle, type Y (LGMD-2Y))
HGMD TOR1AIP1
GeneCards TOR1AIP1
GeneTests TOR1AIP1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024253 1 transcript variant 1 NM_001267578.1 NP_001254507.1 22


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