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| Gene | TSC2 |
| Variant | G1604C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | TSC2 G1604C lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). G1604C has been identified in sequencing studies (PMID: 33727259), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
TSC2 mutant TSC2 G1604C |
| Transcript | NM_000548.5 |
| gDNA | chr16:g.2086340G>T |
| cDNA | c.4810G>T |
| Protein | p.G1604C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001318832.2 | chr16:g.2086860G>T | c.4810G>T | p.G1604C | RefSeq | GRCh38/hg38 |
| NM_000548.4 | chr16:g.2086340G>T | c.4810G>T | p.G1604C | RefSeq | GRCh38/hg38 |
| NM_001406670.1 | chr16:g.2087863G>T | c.4810G>T | p.G1604C | RefSeq | GRCh38/hg38 |
| NM_000548.5 | chr16:g.2086340G>T | c.4810G>T | p.G1604C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| TSC2 G1604C | unknown |