RBM8A
Chr 1ARRNA binding motif protein 8A
Also known as: BOV-1A, BOV-1B, BOV-1C, C1DELq21.1, DEL1q21.1, MDS014, RBM8, TAR
The protein is a core component of the exon junction complex that marks splice sites on mature mRNAs and is required for pre-mRNA splicing, mRNA export, translation regulation, and nonsense-mediated decay. Mutations cause thrombocytopenia-absent radius (TAR) syndrome, which presents in infancy with severe bleeding due to low platelet counts and bilateral absence of the radius bones. TAR syndrome follows autosomal recessive inheritance and the gene shows moderate constraint against loss-of-function variants (LOEUF 0.564).
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RBM8A · 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 →External Resources
Links to major genomics databases and tools