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Gene TSC2
Variant L493V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 L493V does not lie within any known functional domains of the Tsc2 protein (UniProt.org). L493V results in decreased interaction with Tsc1 in cultured cells, and noncanonical Tsc2 splicing in an in vitro assay, but results in Mtorc1 inhibition similar to wild-type Tsc2 in cultured cells (PMID: 31799751), and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 L493V

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Transcript NM_000548.5
gDNA chr16:g.2064305C>G
cDNA c.1477C>G
Protein p.L493V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.3 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406682.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406683.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406684.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001318831.2 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406685.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406687.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2064362C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406686.1 chr16:g.2071914C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2064305C>G c.1477C>G p.L493V RefSeq GRCh38/hg38
NM_001406688.1 chr16:g.2071914C>G c.1477C>G p.L493V 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