POLR3F
Chr 20ADRNA polymerase III subunit F
Also known as: C34, IMD101, RPC39, RPC6
POLR3F encodes a subunit of RNA polymerase III that transcribes small non-coding RNAs including tRNAs and 5S ribosomal RNA, and functions as a DNA sensor in innate immune responses against viruses and intracellular bacteria. Autosomal dominant mutations cause immunodeficiency with specific susceptibility to varicella zoster virus. The gene shows very low constraint against loss-of-function variants (pLI near 0), suggesting tolerance to haploinsufficiency.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
214 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 | 24 | 0 | 24 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 8 | 70 | 25 | 8 | 111 |
Likely Benign | 1 | 0 | 31 | 19 | 51 |
Benign | 0 | 1 | 13 | 4 | 18 |
Conflicting | — | 2 | |||
| Total | 9 | 71 | 93 | 31 | 206 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
POLR3F · 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 →External Resources
Links to major genomics databases and tools