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Gene TSC1
Variant Q654E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 Q654E lies within the region of the Tsc1 protein that mediates interaction with WDR45B (UniProt.org). Q654E has been identified in sequencing studies (PMID: 10570911), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 Q654E

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Transcript NM_000368.5
gDNA chr9:g.132905618G>C
cDNA c.1960C>G
Protein p.Q654E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000368 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_006717271 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_011518979 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015096 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015098 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_005272211 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001162426 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015097 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132905618G>C c.1960C>G p.Q654E 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