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Gene | TSC2 |
Variant | N1707S |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | TSC2 N1707S lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). N1707S results in protein stability and enzymatic activity similar to wild-type Tsc2 in an in vitro assay and inhibition of mTorc1 signaling similar to wild-type Tsc2 in cultured cells (PMID: 32502382), and therefore, is predicted to have no effect on Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 N1707S |
Transcript | NM_000548.5 |
gDNA | chr16:g.2088099A>G |
cDNA | c.5120A>G |
Protein | p.N1707S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.4 | chr16:g.2088099A>G | c.5120A>G | p.N1707S | RefSeq | GRCh38/hg38 |
NM_000548.5 | chr16:g.2088099A>G | c.5120A>G | p.N1707S | RefSeq | GRCh38/hg38 |
NM_001406664.1 | chr16:g.2088258A>G | c.5120A>G | p.N1707S | RefSeq | GRCh38/hg38 |
NM_000548 | chr16:g.2088099A>G | c.5120A>G | p.N1707S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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