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Gene TSC1
Variant R500*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 R500* results in a premature truncation of the Tsc1 protein at amino acid 500 of 1164 (UniProt.org). R500* has not been characterized however, due to the effects of other truncation mutations downstream of R500 (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 R500*

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Transcript NM_000368.5
gDNA chr9:g.132906080G>A
cDNA c.1498C>T
Protein p.R500*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406623.1 chr9:g.132905713_132905714delAGinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406622.1 chr9:g.132905713_132905714delAGinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38
NM_001406625.1 chr9:g.132905713_132905714delAGinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406620.1 chr9:g.132905713_132905714delAGinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38
XM_006717271 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_017015097 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_017015096 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_011518979 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_017015101.1 chr9:g.132905713_132905714delAGinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_005272211 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_000368 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_017015101 chr9:g.132905713_132905714delCTinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132906080G>A c.1498C>T p.R500* RefSeq GRCh38/hg38
NM_001406621.1 chr9:g.132905713_132905714delAGinsTA c.1498_1499delAGinsTA p.R500* RefSeq GRCh38/hg38

Filtering

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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

  • 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 Protein Effect Treatment Approaches
TSC1 R500* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor
TSC1 R500* TSC1 LOH