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Gene TSC2
Variant T1068I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 T1068I does not lie within any known functional domains of the Tsc2 protein (UniProt.org). T1068I results in the loss of repression of Mtorc1 as indicated by assays demonstrating increased phosphorylation of S6k in cultured cells (PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 T1068I

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Transcript NM_000548.5
gDNA chr16:g.2079347C>T
cDNA c.3203C>T
Protein p.T1068I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001318829.2 chr16:g.2080246C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079347C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079347C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2079586C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079347C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079347C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079347C>T c.3203C>T p.T1068I RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2079586C>T c.3203C>T p.T1068I 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