Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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

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.

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_001406597.1 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_006717271 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_001406606.1 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_000368.5 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_005272211 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_000368 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406600.1 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_011518979.3 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
NM_001406604.1 chr9:g.132905615G>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
NM_001406593.1 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_000368.4 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_001162426.1 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_001162426.2 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015098 chr9:g.132905615G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
XM_017015097.1 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
XM_005272211.1 chr9:g.132905618G>C c.1960C>G p.Q654E RefSeq GRCh38/hg38
NM_001406601.1 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
NM_001406605.1 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
NM_001406603.1 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
NM_001406607.1 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

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 mutant renal cell carcinoma predicted - sensitive Temsirolimus Case Reports/Case Series Actionable In a clinical study, treatment with Afinitor (everolimus) or Torisel (temsirolimus) resulted in more partial responses (odds ratio = 0.08, p=0.030) in patients with renal cell carcinoma harboring mTOR pathway mutations, including MTOR (n=8), TSC1 (n=1), and TSC2 (n=2), than those without mutations (n=76) (PMID: 31335987). 31335987
TSC1 mutant bladder carcinoma sensitive Everolimus Phase II Actionable A retrospective study of a Phase II trial correlated increased sensitivity to the mTOR inhibitor Afinitor (everolimus) with TSC1 mutations in bladder cancer patients (PMID: 22923433). 22923433
TSC1 mutant hepatocellular carcinoma decreased response Sorafenib Clinical Study - Cohort Actionable In a clinical case study, Nexavar (sorafenib) treatment of patients with hepatocellular carcinoma harboring Mtor pathway mutations in PIK3CA, PTEN, TSC2, or TSC1 (n=12), resulted in a lower disease control rate (8.3% vs. 40.2%), shorter progression-free survival (1.9 months vs. 5.3 months) and shorter overall survival (10.4 months vs. 17.9 months) compared to patients without mutations in this pathway (n=67) (PMID: 30373752; NCT01775072). 30373752
TSC1 mutant lung non-small cell carcinoma no benefit Vistusertib Case Reports/Case Series Actionable In a Phase II trial (NLMT), Vistusertib (AZD2014) treatment did not result in a confirmed response (0/5) or durable clinical benefit (0/5) in patients with non-small cell lung cancer harboring TSC1 or TSC2 mutations, thus the cohort was closed due to futility (PMID: 32669708, NCT02664935). 32669708
TSC1 mutant subependymal giant cell astrocytoma predicted - sensitive Everolimus Phase III Actionable In a Phase III trial (EXIST-1), Afinitor (everolimus) treatment resulted in a 50% or more tumor reduction in 35% (27/78) of adult and pediatric patients diagnosed with tuberous sclerosis complex and had subependymal giant cell astrocytoma, compared to 0% (0/39) in the placebo group, 85% (99/117) of the patients harbored mutations in TSC1 and/or TSC2 (PMID: 23158522; NCT00789828). 23158522
TSC1 mutant renal cell carcinoma conflicting Everolimus Clinical Study - Cohort Actionable In a retrospective analysis, TSC1, TSC2, or MTOR mutation status was not associated with progression-free survival in renal cell carcinoma patients treated with Afinitor (everolimus) (PMID: 30327302). 30327302
TSC1 mutant renal cell carcinoma conflicting Everolimus Case Reports/Case Series Actionable In a clinical study, treatment with Afinitor (everolimus) or Torisel (temsirolimus) resulted in more partial responses (odds ratio = 0.08, p=0.030) in patients with renal cell carcinoma harboring mTOR pathway mutations, including MTOR (n=8), TSC1 (n=1), and TSC2 (n=2), than those without mutations (n=76) (PMID: 31335987). 31335987