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Gene TSC2
Variant L1504F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 L1504F does not lie within any known functional domains of the Tsc2 protein (UniProt.org). L1504F has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 L1504F

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Transcript NM_000548.5
gDNA chr16:g.2084967C>T
cDNA c.4510C>T
Protein p.L1504F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2084967C>T c.4510C>T p.L1504F RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2086253_2086255delCTGinsTTT c.4510_4512delCTGinsTTT p.L1504F RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2084967C>T c.4510C>T p.L1504F RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2085302_2085304delCTGinsTTT c.4510_4512delCTGinsTTT p.L1504F 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References