TSC2 F1668L
Gene Variant Detail

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Gene TSC2
Variant F1668L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 F1668L lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). F1668L results in protein stability and inhibition of mTORC1 signaling similar to wild-type Tsc2 in cultured cells but results in a loss of catalytic activity in an in vitro assay (PMID: 32502382), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 F1668L

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Transcript NM_000548.5
gDNA chr16:g.2087875T>C
cDNA c.5002T>C
Protein p.F1668L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2087875T>C c.5002T>C p.F1668L RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2087875T>C c.5002T>C p.F1668L RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References