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VARS2

From Wikipedia, the free encyclopedia
VARS2
Identifiers
AliasesVARS2, COXPD20, VALRS, VARS2L, VARSL, valyl-tRNA synthetase 2, mitochondrial
External IDsOMIM: 612802; MGI: 1916165; HomoloGene: 57502; GeneCards: VARS2; OMA:VARS2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_020442
NM_001167733
NM_001167734

NM_175137

RefSeq (protein)

NP_001161205
NP_001161206
NP_065175

NP_780346

Location (UCSC)Chr 6: 30.91 – 30.93 MbChr 17: 35.97 – 35.98 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Valyl-tRNA synthetase 2, mitochondrial is a protein that in humans is encoded by the VARS2 gene. [5]

Function

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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. [provided by RefSeq, Aug 2014].

References

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  1. ^ a b c ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494 GRCh38: Ensembl release 89: ENSG00000137411, ENSG00000206476, ENSG00000234032, ENSG00000230985, ENSG00000236178, ENSG00000223494Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000038838Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Valyl-tRNA synthetase 2, mitochondrial". Retrieved 2018-03-21.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.