Identity
HGNC
LOCATION
6p21.33
LOCUSID
ALIAS
COXPD20,VALRS,VARS2L,VARSL
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57176
MIM: 612802
HGNC: 21642
Ensembl: ENSG00000137411
Variants:
dbSNP: 57176
ClinVar: 57176
TCGA: ENSG00000137411
COSMIC: VARS2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31064326 | 2019 | VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype. | 6 |
| 31529142 | 2019 | A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. | 4 |
| 31064326 | 2019 | VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype. | 6 |
| 31529142 | 2019 | A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. | 4 |
| 29314548 | 2018 | Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. | 15 |
| 30458719 | 2018 | A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family. | 9 |
| 29314548 | 2018 | Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial disease. | 15 |
| 30458719 | 2018 | A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family. | 9 |
| 29137650 | 2017 | Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. | 10 |
| 29137650 | 2017 | Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism. | 10 |
| 25404243 | 2015 | Association of VARS2-SFTA2 polymorphisms with the risk of chronic hepatitis B in a Korean population. | 10 |
| 25404243 | 2015 | Association of VARS2-SFTA2 polymorphisms with the risk of chronic hepatitis B in a Korean population. | 10 |
| 20503108 | 2011 | VARS2 V552V variant as prognostic marker in patients with early breast cancer. | 7 |
| 20503108 | 2011 | VARS2 V552V variant as prognostic marker in patients with early breast cancer. | 7 |
| 20503108 | 2011 | VARS2 V552V variant as prognostic marker in patients with early breast cancer. | 7 |
Citation
Dessen P
VARS2 (valyl-tRNA synthetase 2, mitochondrial)
Atlas Genet Cytogenet Oncol Haematol. 2005-11-01
Online version: http://atlasgeneticsoncology.org/gene/43073/vars2
