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Gene TSC1
Variant R424fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 R424fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 424 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). R424fs has not been characterized however, due to the effects of other truncation mutations downstream of R424 (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 R424fs

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Transcript NM_000368.5
gDNA chr9:g.(132907364_132907365)
cDNA c.(1270_1269)
Protein p.R424fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006717271 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_011518979 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_017015097 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_005272211 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_017015096 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_000368 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_000368.5 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.(132907364_132907365) c.(1270_1269) p.R424fs 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC1 R424fs transitional cell carcinoma no benefit Buparlisib Case Reports/Case Series Actionable In a Phase II trial, Buparlisib (BKM120) treatment resulted in progressive disease in a patient with metastatic urothelial carcinoma harboring TSC1 R424fs (PMID: 32767682; NCT01551030). 32767682