DDX6
Chr 11ADDEAD-box helicase 6
Also known as: HLR2, IDDILF, P54, RCK, Rck/p54
This protein is an RNA helicase that forms P-bodies for mRNA storage and degradation and is required for microRNA-induced gene silencing. Mutations cause autosomal dominant intellectual developmental disorder with impaired language and dysmorphic facies. The gene is highly constrained against loss-of-function variants (pLI 1.00), indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
147 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 5 | 26 | 0 | 31 |
Likely Pathogenic | 0 | 3 | 2 | 0 | 5 |
VUS | 7 | 50 | 11 | 1 | 69 |
Likely Benign | 0 | 4 | 4 | 2 | 10 |
Benign | 0 | 0 | 5 | 1 | 6 |
Conflicting | — | 1 | |||
| Total | 7 | 62 | 48 | 4 | 122 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DDX6 · 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
External Resources
Links to major genomics databases and tools