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Gene TSC1
Variant Q516*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC1 Q516* results in a premature truncation of the Tsc1 protein at amino acid 516 of 1164 (UniProt.org). Q516* has not been characterized however, due to the effects of other truncation mutations downstream of Q516 (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 Q516*

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Transcript NM_000368.5
gDNA chr9:g.132906032G>A
cDNA c.1546C>T
Protein p.Q516*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005272211.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_017015097 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_017015096 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406626.1 chr9:g.132901594G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406630.1 chr9:g.132900741G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_006717271 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_011518979 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
XM_005272211 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406629.1 chr9:g.132900741G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_000368 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132906032G>A c.1546C>T p.Q516* RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132906032G>A c.1546C>T p.Q516* 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 Q516* loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor