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Gene TSC2
Variant Q1192*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 Q1192* results in a premature truncation of the Tsc2 protein at amino acid 1192 of 1807 (UniProt.org). Q1192* has not been characterized however, due to the effects of other truncation mutations downstream of Q1192 (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 Q1192*

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Transcript NM_000548.5
gDNA chr16:g.2080341C>T
cDNA c.3574C>T
Protein p.Q1192*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406680.1 chr16:g.2084396C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080341C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2081669C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080341C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2080341C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2081669C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080341C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080341C>T c.3574C>T p.Q1192* RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2080341C>T c.3574C>T p.Q1192* 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries