POLGARF
Chr 15POLG alternative reading frame
Also known as: ORF-Y
POLGARF encodes a 260 amino acid protein that may interact with P32 (C1QBP), a mitochondrial matrix protein involved in mitochondrial genome-encoded protein expression, and potentially sequesters P32 in the nucleolus. Some disease-causing mutations previously attributed to POLG may actually be associated with POLGARF, though the specific phenotypes and inheritance pattern for POLGARF mutations remain to be fully characterized. This gene uses an alternate reading frame of the POLG transcript, making it a distinct protein product from POLG isoforms.
Some data sources returned errors (1)
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is gain-of-function.
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
POLGARF · 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 →No open access results found
External Resources
Links to major genomics databases and tools