QARS1 Chromosome 3
Glutaminyl-tRNA synthetase 1
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What This Gene Does
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. In metazoans, 9 aminoacyl-tRNA synthetases specific for glutamine (gln), glutamic acid (glu), and 7 other amino acids are associated within a multienzyme complex. Although present in eukaryotes, glutaminyl-tRNA synthetase (QARS) is absent from many prokaryotes, mitochondria, and chloroplasts, in which Gln-tRNA(Gln) is formed by transamidation of the misacylated Glu-tRNA(Gln). Glutaminyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"Aminoacyl tRNA synthetases, Class I|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000172053
Associated Conditions (9)
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
See cases
Inborn genetic diseases
QARS1-related disorder
Microcephaly
Ovarian serous cystadenocarcinoma
Thymoma
Intellectual disability
autosomal dominant 43
Key Variants
RS1085307775
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS1172486173
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS138204612
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS1398173228
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS141983717
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, See cases, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS142327602
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases, QARS1-related disorder
Health Risk
RS144092780
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS144563810
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS1468382416
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS1559968699
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS185476065
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
RS368358627
Conflicting classifications of pathogenicity
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Health Risk
All Variants (89)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1157267701 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1186557939 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1217013234 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1238347256 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1241706645 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS141184565 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1553751717 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1559966797 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1559967310 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042438780 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042451819 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042500119 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042510074 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042511461 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042518770 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107099019 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107100555 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107102230 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107111037 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107111718 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471844538 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471852020 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471852703 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471859404 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471863066 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471867142 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471867217 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS587777331 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, QARS1-related disorder, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS746028168 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS746293241 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS747938605 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS751537797 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS755674457 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS767667312 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS772343264 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS937998415 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS957599864 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS587777334 | Health Risk | Pathogenic/Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Intellectual disability, autosomal dominant 43 |
| RS776344968 | Health Risk | Pathogenic/Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |