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Gene TSC2
Variant A1719T
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 A1719T lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). A1719T has been identified in sequencing studies (PMID: 31308077), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 A1719T

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Transcript NM_000548.5
gDNA chr16:g.2088134G>A
cDNA c.5155G>A
Protein p.A1719T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382 chr16:g.2088290G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2088290G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088134G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_000548 chr16:g.2088134G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2088290G>A c.5155G>A p.A1719T RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2088134G>A c.5155G>A p.A1719T 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

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