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Gene TSC2
Variant T1059Nfs*109
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 T1059Nfs*109 indicates a shift in the reading frame starting at amino acid 1059 and terminating 109 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). T1059Nfs*109 has not been characterized however, due to the effects of other truncation mutations downstream of T1059 (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 T1059Nfs*109

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Transcript NM_000548.5
gDNA chr16:g.2079319dupA
cDNA c.3175dupA
Protein p.T1059Nfs*109
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636.3 chr16:g.2079319dupA c.3175dupA p.T1059Nfs*109 RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079319dupA c.3175dupA p.T1059Nfs*109 RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079319dupA c.3175dupA p.T1059Nfs*109 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079319dupA c.3175dupA p.T1059Nfs*109 RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079319dupA c.3175dupA p.T1059Nfs*109 RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.(2081762_2084398) c.(3175_3504) p.T1059Nfs*109 RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079319dupA c.3175dupA p.T1059Nfs*109 RefSeq GRCh38/hg38

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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