TARBP1
Chr 1tRNA guanosine 2 -O-methyltransferase TARBP1
Also known as: TRM3, TRMT3, TRP-185, TRP185
This gene encodes an S-adenosyl-L-methionine-dependent methyltransferase that catalyzes 2'-O-methylation at position 18 in specific tRNAs, enhancing their stability. Based on current databases, no definitive human genetic disorders have been established for TARBP1 mutations. The gene shows low constraint against loss-of-function variants (pLI near 0), suggesting it may be more tolerant to such changes than highly constrained developmental genes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TARBP1 · 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