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Gene TSC2
Variant F1510del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions TSC2 F1510del results in the deletion of an amino acid of the Tsc2 protein at amino acid 1510 (UniProt.org). F1510del has been identified in the scientific literature (PMID: 35732329, PMID: 33935721, PMID: 34160418 ), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 F1510del

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Transcript NM_000548.5
gDNA chr16:g.2084985_2084987delTTT
cDNA c.4528_4530delTTT
Protein p.F1510del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2084985_2084987delTTT c.4528_4530delTTT p.F1510del RefSeq GRCh38/hg38
NM_000548 chr16:g.2084985_2084987delTTT c.4528_4530delTTT p.F1510del RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2084985_2084987delTTT c.4528_4530delTTT p.F1510del 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

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