valine--tRNA ligase, mitochondrial isoform 3 [Homo sapiens]

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A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension. [J Mol Med (Berl). 2019]
A combination of two novel VARS2 variants causes a mitochondrial disorder associated with failure to thrive and pulmonary hypertension.
Chin HL, Goh DL, Wang FS, Tay SKH, Heng CK, Donnini C, Baruffini E, Pines O. J Mol Med (Berl). 2019 Nov; 97(11):1557-1566. Epub 2019 Sep 16.
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype. [BMC Med Genet. 2019]
VARS2-linked mitochondrial encephalopathy: two case reports enlarging the clinical phenotype.
Begliuomini C, Magli G, Di Rocco M, Santorelli FM, Cassandrini D, Nesti C, Deodato F, Diodato D, Casellato S, Simula DM, et al. BMC Med Genet. 2019 May 7; 20(1):77. Epub 2019 May 7.
A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family. [BMC Med Genet. 2018]
A novel compound heterozygous mutation in VARS2 in a newborn with mitochondrial cardiomyopathy: a case report of a Chinese family.
Ma K, Xie M, He X, Liu G, Lu X, Peng Q, Zhong B, Li N. BMC Med Genet. 2018 Nov 20; 19(1):202. Epub 2018 Nov 20.

RefSeq genomic sequence
See the genomic reference sequence for the VARS2 gene (NG_034224.1).
RefSeq mRNA
See reference mRNA sequence for the VARS2 gene (NM_001167733.3).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the VARS2 gene.

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Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

valine--tRNA ligase, mitochondrial isoform 3 [Homo sapiens]
valine--tRNA ligase, mitochondrial isoform 3 [Homo sapiens]
gi|268370295|ref|NP_001161205.1|

Protein
Citric Acid
Citric Acid
A key intermediate in metabolism. It is an acid compound found in citrus fruits. The salts of citric acid (citrates) can be used as anticoagulants due to their calcium chelati...<br/>Year introduced: 1997 (1979)

MeSH
D019343 (1)
MeSH

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