Gene: VARS2

Alternate names for this Gene: COXPD20|VALRS|VARS2L|VARSL

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: valyl-tRNA synthetase 2, mitochondrial

Type of Gene: protein-coding

rs587777583 in VARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

rs4678 in VARS2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs587777585 in VARS2 gene and Dysmorphic features PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 27502409 2017 Neonatal encephalocardiomyopathy caused by mutations in VARS2.

rs139515727 in VARS2 gene and Movement Disorders PMID 27502409 2017 Neonatal encephalocardiomyopathy caused by mutations in VARS2.

PMID 21708121 2011 Human diseases with impaired mitochondrial protein synthesis.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 23433712 2013 Mitochondrial aminoacyl-tRNA synthetases in human disease.

PMID 27290639 2016 New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

PMID 24827421 2014 VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.

rs4678 in VARS2 gene and Myasthenia Gravis PMID 23055271 2012 Risk for myasthenia gravis maps to a (151) Pro→Ala change in TNIP1 and to human leukocyte antigen-B*08.

rs1264302 in VARS2 gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.

rs114274879 in VARS2 gene and Squamous cell carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs753725 in VARS2 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.