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NEDBAVC
Chr 12ARDEAH-box helicase 37
Also known as: DDX37, Dhr1, NEDBAVC, SRXY11
This gene encodes a DEAD box RNA helicase involved in RNA processing including translation initiation, splicing, and ribosome assembly. Biallelic mutations cause a neurodevelopmental disorder with brain anomalies and variable vertebral or cardiac anomalies, inherited in an autosomal recessive pattern. The condition affects multiple organ systems during development, reflecting the fundamental role of RNA helicases in cellular processes.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/NEDBAVC?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
NEDBAVC · 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