The AARS gene homepage

NOTE: gene name changed from AARS to AARS1
General information
Gene symbol AARS
Gene name alanyl-tRNA synthetase
Chromosome 16
Chromosomal band q22
Imprinted Unknown
Genomic reference LRG_359
Transcript reference NM_001605.2
Exon/intron information NM_001605.2 exon/intron table
Associated with diseases CMT2N, DEE29
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 184
Unique public DNA variants reported 92
Individuals with public variants 163
Hidden variants 5
Download all this gene's data Download all data
Notes NOTE: gene name changed from AARS to AARS1
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 21, 2011
Date last updated November 27, 2023
Version AARS:231127

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_001605.2.
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
Entrez Gene 16
PubMed articles AARS
OMIM - Gene 601065
OMIM - Diseases CMT2N (Charcot-Marie-Tooth disease, type 2N (CMT2N))
DEE29 (encephalopathy, developmental and epileptic, type 29 (DEE29))
GeneCards AARS
GeneTests AARS
Orphanet AARS

Active transcripts




NCBI ID     

NCBI Protein ID     

00001834 16 alanyl-tRNA synthetase NM_001605.2 NP_001596.2 184

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