VARS2 (Gene)

Organism:

Homo sapiens

Synonyms:COXPD20, ENTREZ:57176, HGNC:21642, MIM:612802, NM_001167733, NM_001167734, NM_020442, NP_001161205, NP_001161206, NP_065175, VALRS, VARS2, VARS2L, VARSL, valyl-tRNA synthetase 2, mitochondrial

Id:ENSG00000223494

Description:valyl-tRNA synthetase 2, mitochondrial [Source:HGNC Symbol;Acc:HGNC:21642]

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]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View VARS2's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with VARS2.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using VARS2.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for VARS2.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with VARS2.

Results found

Linked to

	Label	Description
	Small for gestational age Phenotype (Entity type)	Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...
	Abnormality of mitochondrial metabolism Phenotype (Entity type)	A functional anomaly of mitochondria.

Small for gestational age

Phenotype (Entity type)

Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

Abnormality of mitochondrial metabolism

Phenotype (Entity type)

A functional anomaly of mitochondria.

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The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

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Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

This repository is under review for potential modification in compliance with Administration directives.