TSC2 A1349Gfs*64
Gene Variant Detail

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Gene TSC2
Variant A1349Gfs*64
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 A1349Gfs*64 indicates a shift in the reading frame starting at amino acid 1349 and terminating 64 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). A1349Gfs*64 has not been characterized however, due to the effects of other truncation mutations downstream of A1349 (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 A1349Gfs*64

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Transcript NM_000548.5
gDNA chr16:g.2084268_2084269delCG
cDNA c.4046_4047delCG
Protein p.A1349Gfs*64
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001077183.3 chr16:g.2084468_2084469insGCCCCCCAAAA c.4045_4046insGCCCCCCAAAA p.A1349Gfs*64 RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2084268_2084269delCG c.4046_4047delCG p.A1349Gfs*64 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2084268_2084269delCG c.4046_4047delCG p.A1349Gfs*64 RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2083805_2084410) c.(4045_4239) p.A1349Gfs*64 RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.(2084435_2084629) c.(4045_4239) p.A1349Gfs*64 RefSeq GRCh38/hg38

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  • 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