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Gene TSC2
Variant S1568C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S1568C lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). S1568C results in inhibition of mTorc1 signaling similar to wild-type Tsc2 in cultured cells, but leads to altered Tsc2 protein folding (PMID: 32502382), and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1568C

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Transcript NM_000548.5
gDNA chr16:g.2086233C>G
cDNA c.4703C>G
Protein p.S1568C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2086233C>G c.4703C>G p.S1568C RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2086233C>G c.4703C>G p.S1568C RefSeq GRCh38/hg38
NM_001406679.1 chr16:g.2087924C>G c.4703C>G p.S1568C 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.
  • 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