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VENARG
Chr 2ARkinase D interacting substrate 220
Also known as: ARMS, SINO, VENARG
The protein is a transmembrane scaffold that controls neuronal survival, differentiation, and synaptic plasticity by mediating crosstalk between neurotrophin and other intracellular signaling pathways. Mutations cause ventriculomegaly and arthrogryposis with autosomal recessive inheritance. The condition involves both the central nervous system and musculoskeletal system with presumed prenatal onset given the arthrogryposis presentation.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/VENARG?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VENARG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools