FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED: genes and variants
FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED is linked to 1 analyzed protein (TARDBP). 8 DNA variants are known to cause it; 7 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
TARDBP: TAR DNA-binding protein 43
TDP-43 is an RNA-binding protein that regulates RNA processing, splicing, stability, and transport. Its normal activity supports neuronal and muscle cells, while abnormal TDP-43 accumulation is closely associated with amyotrophic lateral sclerosis and frontotemporal degeneration.
8 disease-causing and 7 uncertain variants in TARDBP are linked to FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED.
Where FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED variants cluster
- TARDBP Interaction with UBQLN2 (positions 216–414): 8 of 8 disease-causing changes, 2.1× more than its size predicts.
Known disease-causing variants in FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| TARDBP G294A | 294 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP G294V | 294 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP M337V | 337 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP A382T | 382 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP G298S | 298 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP A315T | 315 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP G348C | 348 | Interaction with UBQLN2 | Disease-causing (★★) |
| TARDBP G295S | 295 | Interaction with UBQLN2 | Disease-causing (★) |
Uncertain variants in FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| TARDBP G295R | 295 | Interaction with UBQLN2 | Conflicting reports (★) | +6: 4 other pathogenic changes within 3 positions; G295S at the same position is pathogenic; not seen in the gnomAD population database; AlphaMissense 0.81 |
Same protein, different disease
- Amyotrophic lateral sclerosis is also caused by TARDBP variants; they fall mostly in different places as the FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED variants (12 disease-causing).
Diseases related to FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED
- Amyotrophic lateral sclerosis, also linked to TARDBP
- Motor neuron disease, also linked to TARDBP
Frequently asked questions
Which genes are linked to FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED?
In CATVariant, FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED is linked to 1 analyzed protein: TARDBP (TAR DNA-binding protein 43).
How many genetic variants are linked to FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED?
15 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 7 are of uncertain significance or have conflicting reports.
Which uncertain variants in FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example TARDBP G295R. These are leads for expert review, not diagnoses.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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