POLE3
Chr 9DNA polymerase epsilon 3, accessory subunit
Also known as: CHARAC17, CHRAC17, CHRAC2, YBL1, p17
POLE3 encodes an accessory component of the DNA polymerase epsilon complex that participates in chromosomal DNA replication and repair, and forms complexes that incorporate DNA into chromatin structure. Mutations cause autosomal recessive microcephaly, short stature, and intellectual disability with onset in early childhood. The gene shows tolerance to loss-of-function variants (low constraint), consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLE3 · 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