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Gene TSC2
Variant D1656Y
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions TSC2 D1656Y lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). D1656Y results in noncanonical splicing of Tsc2 in cultured cells (PMID: 31799751), but protein stability and enzymatic activity similar to wild-type Tsc2 in an in vitro assay (PMID: 32502382), inhibition of Mtorc1 signaling similar to wild-type Tsc2 in cultured cells (PMID: 32502382, PMID: 31799751), and interaction with Tsc1 similar to wild-type Tsc2 in cultured cells (PMID: 31799751), and therefore, is predicted to have no effect on Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 D1656Y

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Transcript NM_000548.5
gDNA chr16:g.2086848G>T
cDNA c.4966G>T
Protein p.D1656Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2086848G>T c.4966G>T p.D1656Y RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2086848G>T c.4966G>T p.D1656Y 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