TERF2 (Q15554) variants and mutations

TERF2 (also known as Q15554) is a human protein-coding gene encoding a telomeric repeat-binding factor 2 protein. It protects double-stranded telomeric DNA within the shelterin complex, preventing chromosome ends from activating DNA-damage responses or undergoing end-to-end fusion. Loss of function causes telomere instability, while altered telomere protection can contribute to aging and cancer biology. This analysis covers 753 TERF2 variants and mutations. Of these, 80% have computational variant effect predictions. Disease context includes neurodegenerative disease, atrial fibrillation, and lung abscess. Example TERF2 variants include A2V, A3G, and G4R.

Variant analysis overview

Gene: TERF2
Protein: Q15554
UniProt accession: Q15554
Organism: Homo sapiens
Variants analyzed: 753
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 526 unspecified-consequence records; 119 missense variants; 8 frameshift variants; 82 synonymous variants; 4 stop-gained variants; 2 in-frame insertions; 3 splice-region variants; 1 stop retained variant; 2 stop lost; 5 in-frame deletions; 1 substitution
Prediction scores: 604 variants have prediction scores (80% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: neurodegenerative disease, atrial fibrillation, lung abscess, bronchopneumonia, Alzheimer disease, Parkinson disease, multiple sclerosis, lysosomal storage disease, cardiovascular disorder, neoplasm, cancer, gastric cancer.

Protein structure and variant hotspots

Protein features: 1 domains; 4 post-translational modification sites.
Structural context: 78 variants have structural context.
PTM context: 6 variants overlap post-translational modification sites.
Experimental data: 54 protein positions have experimental scores. Source: TERF2 SANT/Myb domain domainome 1.0.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable TERF2 variants

Examples include A2V, A3G, G4R, A5P, A5S, A5T, G6E, G6R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

TERF2 analysis run — TERF2 (753 variants) — completed 2026-08-20