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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198514452009High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.51
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
162298382005Three-dimensional reconstruction of the valyl-tRNA synthetase/elongation factor-1H complex and localization of the delta subunit.6
307556022019Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.6
296916552018Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.4

Citation

Dessen P

VARS1 (valyl-tRNA synthetase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75584/vars1