VARS1 Chromosome 6
Valyl-tRNA synthetase 1
Upload your DNA to see your personal genotypes for variants in VARS1.
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. The protein encoded by this gene belongs to class-I aminoacyl-tRNA synthetase family and is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000204394
Associated Conditions (5)
Abnormal brain morphology
Neurodevelopmental disorder with microcephaly
seizures
and cortical atrophy
6 conditions
Key Variants
RS1060499734
Conflicting classifications of pathogenicity
Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, seizures
Health Risk
RS1230283665
Conflicting classifications of pathogenicity
6 conditions, Neurodevelopmental disorder with microcephaly, seizures
Health Risk
RS139579796
Conflicting classifications of pathogenicity
Health Risk
RS150882285
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS1581645904
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS749228986
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS777665186
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS1336685414
Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS149378938
Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS2151417852
Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS2151419208
Likely pathogenic
Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Health Risk
RS2480925588
Likely pathogenic
Health Risk
All Variants (32)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499734 | Health Risk | Conflicting classifications of pathogenicity | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, seizures |
| RS1230283665 | Health Risk | Conflicting classifications of pathogenicity | 6 conditions, Neurodevelopmental disorder with microcephaly, seizures |
| RS139579796 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150882285 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS1581645904 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS749228986 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS777665186 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS1336685414 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS149378938 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS2151417852 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS2151419208 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS2480925588 | Health Risk | Likely pathogenic | — |
| RS2537589468 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS2537599374 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS373279419 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS758873284 | Health Risk | Likely pathogenic | — |
| RS764895082 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS765740144 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS769369302 | Health Risk | Likely pathogenic | Abnormal brain morphology, Neurodevelopmental disorder with microcephaly, seizures |
| RS1562293093 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS1562301511 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS1562303235 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS1812931789 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS1813160712 | Health Risk | Pathogenic | — |
| RS2480863500 | Health Risk | Pathogenic | — |
| RS2480864905 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS376864621 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS746631390 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS747824231 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS757026184 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS763777257 | Health Risk | Pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |
| RS776596987 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy |