TSC1 L557Cfs*72
Gene Variant Detail

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Gene TSC1
Variant L557Cfs*72
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 L557Cfs*72 indicates a shift in the reading frame starting at amino acid 557 and terminating 72 residues downstream causing a premature truncation of the 1164 amino acid Tsc1 protein (UniProt.org). L557Cfs*72 has not been characterized however, due to the effects of other truncation mutations downstream of L557 (PMID: 11875047, PMID: 20547222), is predicted to lead to a loss of Tsc1 protein function.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 L557Cfs*72

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Transcript NM_000368.5
gDNA chr9:g.132905910delG
cDNA c.1669delC
Protein p.L557Cfs*72
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406607.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_006717271 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_000368 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_017015097 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_017015096 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_005272211 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_011518979 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132905910delG c.1669delC p.L557Cfs*72 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")

Sorting

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