POP1
Chr 8ARPOP1 homolog, ribonuclease P/MRP subunit
The protein functions as a ribonuclease that processes pre-RNA in both the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. Mutations cause anauxetic dysplasia 2, a skeletal dysplasia syndrome, with autosomal recessive inheritance. This gene shows low constraint against loss-of-function variants (pLI near 0), suggesting tolerance to such changes in the general population.
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
POP1 · 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