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| Gene | TSC1 |
| Variant | Q865* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | TSC1 Q865* does not lie within any known functional domains of the Tsc1 protein (UniProt.org). Q865* has been identified in the scientific literature (PMID: 37377403, PMID: 27882345), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
TSC1 mutant TSC1 Q865* |
| Transcript | NM_000368.5 |
| gDNA | chr9:g.132900747G>A |
| cDNA | c.2593C>T |
| Protein | p.Q865* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000368.4 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| NM_001406595.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| XM_017015096.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| XM_006717271.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| NM_000368.5 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| XM_017015097.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| XM_011518979.3 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| NM_001406594.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| NM_001406596.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| XM_011518979.2 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| XM_005272211.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| NM_001406592.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| NM_001406593.1 | chr9:g.132900747G>A | c.2593C>T | p.Q865* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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