DPY19L4
Chr 8dpy-19 like 4
The protein is a C-mannosyltransferase that adds mannose sugars to tryptophan residues on target proteins in the endoplasmic reticulum membrane. Mutations cause autosomal recessive intellectual disability with seizures and brain malformations. The gene shows no intolerance to loss-of-function variants based on population data.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
169 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 | 0 | 37 | 0 | 37 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 76 | 1 | 0 | 77 |
Likely Benign | 0 | 2 | 1 | 1 | 4 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 78 | 42 | 1 | 121 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DPY19L4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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