VARS2 Chromosome 6
Valyl-tRNA synthetase 2, mitochondrial
Upload your DNA to see your personal genotypes for variants in VARS2.
What This Gene Does
This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Gene Info
Gene Group
Aminoacyl tRNA synthetases, Class I
Locus Type
gene with protein product
Location
6p21.33
Ensembl
ENSG00000137411
Associated Conditions (6)
Inborn genetic diseases
Combined oxidative phosphorylation defect type 20
VARS2-related disorder
See cases
Adrenocortical carcinoma
hereditary
Key Variants
RS1356501558
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138855624
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
Health Risk
RS139515727
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 20, Inborn genetic diseases, Combined oxidative phosphorylation defect type 20
Health Risk
RS140184279
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
Health Risk
RS143408155
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
Health Risk
RS143473050
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
Health Risk
RS145055169
Conflicting classifications of pathogenicity
Health Risk
RS150863068
Conflicting classifications of pathogenicity
Health Risk
RS1794042527
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
Health Risk
RS200019717
Conflicting classifications of pathogenicity
Health Risk
RS200168128
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201758263
Conflicting classifications of pathogenicity
VARS2-related disorder, VARS2-related disorder
Health Risk
All Variants (53)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1356501558 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138855624 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS139515727 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Inborn genetic diseases, Combined oxidative phosphorylation defect type 20 |
| RS140184279 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS143408155 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS143473050 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS145055169 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150863068 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1794042527 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS200019717 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200168128 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201758263 | Health Risk | Conflicting classifications of pathogenicity | VARS2-related disorder, VARS2-related disorder |
| RS202201763 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, See cases, Inborn genetic diseases |
| RS367960344 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368546838 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS535246705 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS570231965 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation defect type 20, VARS2-related disorder, Combined oxidative phosphorylation defect type 20 |
| RS778868393 | Health Risk | Conflicting classifications of pathogenicity | VARS2-related disorder, VARS2-related disorder |
| RS1017764354 | Health Risk | Likely pathogenic | — |
| RS1370457169 | Health Risk | Likely pathogenic | — |
| RS1554268077 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS1554268192 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS1794789052 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS2150548621 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS2150570235 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS2538661360 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS2538675033 | Health Risk | Likely pathogenic | — |
| RS753139152 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS759199684 | Health Risk | Likely pathogenic | — |
| RS763285420 | Health Risk | Likely pathogenic | — |
| RS767781351 | Health Risk | Likely pathogenic | — |
| RS773675647 | Health Risk | Likely pathogenic | — |
| RS774811075 | Health Risk | Likely pathogenic | — |
| RS775439829 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS1267164875 | Health Risk | Pathogenic | — |
| RS1434914864 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS1794768738 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS2538628568 | Health Risk | Pathogenic | — |
| RS2538630404 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS587777583 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS587777584 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS587777585 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Inborn genetic diseases, Combined oxidative phosphorylation defect type 20 |
| RS753490759 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS769768815 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS772718755 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20 |
| RS773737253 | Health Risk | Pathogenic | — |
| RS908881657 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS985673517 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS143821815 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 20, Inborn genetic diseases, Combined oxidative phosphorylation defect type 20 |
| RS1582173192 | Health Risk | Pathogenic/Likely pathogenic | — |