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Gene | TSC2 |
Variant | R1409G |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | TSC2 R1409G does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R1409G results in canonical splicing in an in vitro assay, and leads to Tsc1 interaction and Mtorc1 inhibition similar to wild-type Tsc2 in cultured cells (PMID: 31799751), and therefore, is predicted to have no effect on Tsc2 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
TSC2 mutant TSC2 R1409G |
Transcript | NM_000548.5 |
gDNA | chr16:g.2084447C>G |
cDNA | c.4225C>G |
Protein | p.R1409G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000548.5 | chr16:g.2084447C>G | c.4225C>G | p.R1409G | RefSeq | GRCh38/hg38 |
NM_000548.4 | chr16:g.2084447C>G | c.4225C>G | p.R1409G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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