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Gene TSC2
Variant S1723*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 S1723* results in a premature truncation of the Tsc2 protein at amino acid 1723 of 1807 (UniProt.org). S1723* has not been characterized however, due to the effects of other truncation mutations downstream of S1723 (PMID: 22903760), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 S1723*

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Transcript NM_000548.5
gDNA chr16:g.2088234C>A
cDNA c.5168C>A
Protein p.S1723*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2088234C>A c.5168C>A p.S1723* RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088234C>A c.5168C>A p.S1723* 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

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  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries