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Gene TSC1
Variant E801*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions TSC1 E801* results in a premature truncation of the Tsc1 protein at amino acid 801 of 1164 (UniProt.org). E801* has not been characterized in the scientific literature and therefore, its effect on Tsc1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 E801*

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Transcript NM_000368.5
gDNA chr9:g.132901690C>A
cDNA c.2401G>T
Protein p.E801*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011518979.3 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132901690C>A c.2401G>T p.E801* RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132901690C>A c.2401G>T p.E801* 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 Protein Effect Treatment Approaches
TSC1 E801* unknown mTOR Inhibitor mTORC1 Inhibitor