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Gene TSC2
Variant A614D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 A614D does not lie within any known functional domains of the Tsc2 protein (UniProt.org). A614D confers a loss of function to Tsc2 as demonstrated by decreased Tsc2 phosphorylation and Tsc1 binding in cultured cells (PMID: 11741832), failure to suppress S6k phosphorylation (PMID: 15483652, PMID: 21309039) and 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 A614D

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Transcript NM_000548.5
gDNA chr16:g.2071511C>A
cDNA c.1841C>A
Protein p.A614D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005255531.4 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2071511C>A c.1841C>A p.A614D RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2071511C>A c.1841C>A p.A614D 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