HS6ST3
Chr 13heparan sulfate 6-O-sulfotransferase 3
Also known as: HS6ST-3
The HS6ST3 protein is a 6-O-sulfation enzyme that catalyzes the transfer of sulfate to heparan sulfate, generating structures required for interactions with various proteins involved in proliferation, differentiation, adhesion, migration, and inflammation. This gene is highly constrained against loss-of-function variants (pLI=0.99, LOEUF=0.22), suggesting that mutations would likely cause severe developmental disorders, though specific disease associations have not yet been established. Any associated conditions would follow an autosomal inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
180 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 | 83 | 0 | 83 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 79 | 13 | 0 | 92 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 80 | 97 | 1 | 178 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HS6ST3 · 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