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Gene TSC2
Variant R1138*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 R1138* results in a premature truncation of the Tsc2 protein at amino acid 1138 of 1807 (UniProt.org). R1138* has not been characterized however, due to the effects of other truncation mutations downstream of R1138 (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 R1138*

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Transcript NM_000548.5
gDNA chr16:g.2080179C>T
cDNA c.3412C>T
Protein p.R1138*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406682.1 chr16:g.2084303C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2080368_2080369delAGinsTA c.3412_3413delAGinsTA p.R1138* RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2080179C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080179C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2080179C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2084303C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080179C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080179C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080179C>T c.3412C>T p.R1138* RefSeq GRCh38/hg38

Filtering

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References