PAGR1
Chr 16PAXIP1 associated glutamate rich protein 1
Also known as: C16orf53, GAS, PA1
PAGR1 encodes a transcriptional cofactor that associates with histone methyltransferase complexes and regulates estrogen receptor signaling and cell cycle progression. Mutations cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and behavioral abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.538), consistent with its role in essential cellular processes.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PAGR1 · 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