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Gene TSC2
Variant C696Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 C696Y does not lie within any known functional domains of the Tsc2 protein (UniProt.org). C696Y confers a loss of function to Tsc2 as demonstrated by decreased suppression of S6k phosphorylation (PMID: 15483652, PMID: 21309039), failure to stimulate Rheb GTPase activity (PMID: 15483652), and decreased Tsc2 stability in culture (PMID: 21309039).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 C696Y

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Transcript NM_000548.5
gDNA chr16:g.2071924G>A
cDNA c.2087G>A
Protein p.C696Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522637.2 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2071924G>A c.2087G>A p.C696Y RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2071924G>A c.2087G>A p.C696Y 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