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 |
|---|---|---|---|
| RS1085307775 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1172486173 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS138204612 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1398173228 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS141983717 | Health Risk | 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 |
| RS142327602 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases, QARS1-related disorder |
| RS144092780 | Health Risk | 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 |
| RS144563810 | Health Risk | 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 |
| RS1468382416 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1559968699 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS185476065 | Health Risk | 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 |
| RS368358627 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS369802930 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS373289986 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS375454834 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS377454880 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS553194272 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS587777332 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS62621067 | Health Risk | 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 |
| RS749055007 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS751676545 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS752251563 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS752600100 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Microcephaly, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS769378726 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS774980346 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS775642346 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS775652214 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Inborn genetic diseases |
| RS776640127 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS916890735 | Health Risk | Conflicting classifications of pathogenicity | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1024765171 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Ovarian serous cystadenocarcinoma, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1028746179 | Health Risk | Likely pathogenic | — |
| RS1187534568 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1230015326 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1232739970 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Thymoma, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1262558494 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS1294643628 | Health Risk | Likely pathogenic | — |
| RS1331307146 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042417862 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2042472129 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107095933 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107101318 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107108875 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2107109028 | Health Risk | Likely pathogenic | — |
| RS2107112006 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS2471856206 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS372844870 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS587777333 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS79363335 | Health Risk | Likely pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |
| RS998353408 | Health Risk | Likely pathogenic | — |
| RS1064795119 | Health Risk | Pathogenic | Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome, Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome |