VARS1 (valyl-tRNA synthetase 1)

2014-11-01  

Identity

HGNC
VARS1
LOCATION
6p21.33
LOCUSID
7407
ALIAS
G7A,NDMSCA,VARS,VARS2

Other Information

Locus ID:

NCBI: 7407
MIM: 192150
HGNC: 12651
Ensembl: ENSG00000204394

Variants:

dbSNP: 7407
ClinVar: 7407
TCGA: ENSG00000204394
COSMIC: VARS1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204394ENST00000375663P26640
ENSG00000204394ENST00000375663A0A024RCN6
ENSG00000204394ENST00000428445H0Y426
ENSG00000204394ENST00000440048A2ABF4

Pathways

PathwaySourceExternal ID
Aminoacyl-tRNA biosynthesisKEGGko00970
Aminoacyl-tRNA biosynthesisKEGGhsa00970
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGhsa_M00359
Aminoacyl-tRNA biosynthesis, eukaryotesKEGGM00359
Gene ExpressionREACTOMER-HSA-74160
tRNA AminoacylationREACTOMER-HSA-379724
Cytosolic tRNA aminoacylationREACTOMER-HSA-379716

References

Pubmed IDYearTitleCitations
375870642023High expression of VARS promotes the growth of multiple myeloma cells by causing imbalance in valine metabolism.1
375870642023High expression of VARS promotes the growth of multiple myeloma cells by causing imbalance in valine metabolism.1
343824952021Effects of PPM1K rs1440581 and rs7678928 on serum branched-chain amino acid levels and risk of cardiovascular disease.5
343824952021Effects of PPM1K rs1440581 and rs7678928 on serum branched-chain amino acid levels and risk of cardiovascular disease.5
307556022019Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.24
307556022019Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.24
296916552018Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.10
296916552018Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.10
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.58
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.58
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
162298382005Three-dimensional reconstruction of the valyl-tRNA synthetase/elongation factor-1H complex and localization of the delta subunit.8

Citation

Dessen P

VARS1 (valyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75584/meetings/css/lib/favicon/manifest.json