TSC2 L1750Afs*25
Gene Variant Detail

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Gene TSC2
Variant L1750Afs*25
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 L1750Afs*25 indicates a shift in the reading frame starting at amino acid 1750 and terminating 25 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). L1750Afs*25 results in increased mTORC1 signaling in culture (PMID: 22903760), 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 L1750Afs*25

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Transcript NM_000548.5
gDNA chr16:g.2088313dupG
cDNA c.5247dupG
Protein p.L1750Afs*25
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2088313dupG c.5247dupG p.L1750Afs*25 RefSeq GRCh38/hg38
NM_000548 chr16:g.2088313dupG c.5247dupG p.L1750Afs*25 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088313dupG c.5247dupG p.L1750Afs*25 RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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