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Gene TSC1
Variant E636fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 E636fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 636 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). E636fs has not been characterized however, due to the effects of other truncation mutations downstream of E636 (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 E636fs

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Transcript NM_000368.5
gDNA chr9:g.(132905672_132905673)
cDNA c.(1906_1905)
Protein p.E636fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406597.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_000368 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406629.1 chr9:g.(132897200_132897201) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_006717271 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_000368.5 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015100.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001162426 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015097 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.(132903800_132903801) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406630.1 chr9:g.(132897200_132897201) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.(132903800_132903801) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_005272211 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015099 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015096 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.(132903800_132903801) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_011518979 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015098 chr9:g.(132905669_132905670) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001162427 chr9:g.(132903800_132903801) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015100 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.(132905672_132905673) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs RefSeq GRCh38/hg38
NM_001406624.1 chr9:g.(132902727_132902728) c.(1906_1905) p.E636fs 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC1 E636fs bladder carcinoma sensitive Everolimus Case Reports/Case Series Actionable A retrospective study of a Phase II trial correlated increased sensitivity to the mTOR inhibitor Afinitor (everolimus) with TSC1 mutations in bladder cancer patients, including one patient harboring TSC1 E636fs* who had a durable complete response (PMID: 22923433). 22923433