TSC2 L1597Rfs*4
Gene Variant Detail

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Gene TSC2
Variant L1597Rfs*4
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 L1597Rfs*4 indicates a shift in the reading frame starting at amino acid 1597 and terminating 4 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). L1597Rfs*4 has not been characterized however, due to the effects of other truncation mutations downstream of L1597 (PMID: 22903760), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 L1597Rfs*4

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Transcript NM_000548.5
gDNA chr16:g.2086319_2086320insGCCCCCCATAA
cDNA c.4789_4790insGCCCCCCATAA
Protein p.L1597Rfs*4
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2086319_2086320insGCCCCCCATAA c.4789_4790insGCCCCCCATAA p.L1597Rfs*4 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2086319_2086320insGCCCCCCATAA c.4789_4790insGCCCCCCATAA p.L1597Rfs*4 RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2086803_2086804insGCCCCCCATAA c.4789_4790insGCCCCCCATAA p.L1597Rfs*4 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