YTHDF1
Chr 20YTH N6-methyladenosine RNA binding protein F1
YTHDF1 encodes a protein that specifically recognizes and binds N6-methyladenosine (m6A)-containing mRNAs and regulates their stability and translation, playing essential roles in learning, memory formation, and axon guidance in the nervous system. The gene is highly constrained against loss-of-function variants (pLI 0.99, LOEUF 0.24), suggesting that mutations would likely cause severe developmental consequences, though specific disease associations have not yet been established in patients. Given its critical function in neuronal mRNA regulation and memory formation, pathogenic variants would be expected to cause neurodevelopmental disorders.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
YTHDF1 · 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