TSC2 H1746_R1751del
Gene Variant Detail

Request Content

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 TSC2
Variant H1746_R1751del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions TSC2 H1746_R1751del (also referred to as R1743_K1748del) results in the deletion of six amino acids in the Rap-GAP domain of the Tsc2 protein from amino acids 1746 to 1751 (UniProt.org). H1746_R1751del confers a loss of function on the Tsc2 protein as indicated by destabilization of the TSC1-TSC2 complex (PMID: 21309039), increased phosphorylation of S6, potentially resulting in hyperactivation of Mtorc1, and a decrease in Akt phosphorylation in cultured cells. (PMID: 31591157).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 H1746_R1751del

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_000548.5
gDNA chr16:g.2088304_2088321del18
cDNA c.5238_5255del18
Protein p.H1746_R1751del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2088304_2088321del18 c.5238_5255del18 p.H1746_R1751del RefSeq GRCh38/hg38
NM_000548 chr16:g.2088304_2088321del18 c.5238_5255del18 p.H1746_R1751del RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2088304_2088321del18 c.5238_5255del18 p.H1746_R1751del 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