POLR3K
Chr 16ARRNA polymerase III subunit K
The protein functions as a core component of RNA polymerase III, which synthesizes transfer RNAs and small ribosomal RNAs, and monitors transcription fidelity by cleaving mis-incorporated nucleotides. Mutations cause hypomyelinating leukodystrophy-7 with or without oligodontia, a childhood-onset disorder affecting white matter development and sometimes tooth formation, inherited in an autosomal recessive pattern. The gene shows moderate tolerance to loss-of-function variants (LOEUF 1.228), consistent with the recessive inheritance pattern observed clinically.
Limited evidence — not for standalone diagnostic reporting
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POLR3K · 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