Gene Variant Detail

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Gene TSC2
Variant V299fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 V299fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 299 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). V299fs has not been characterized however, due to the effects of other truncation mutations downstream of V299 (PMID: 22903760, PMID: 31454656), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 V299fs

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Transcript NM_000548.5
gDNA chr16:g.(2058792_2058793)
cDNA c.(895_894)
Protein p.V299fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522636 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_021055.3 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001077183 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522639 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_017023616 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_000548 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522640 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_005255529 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_017023615 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_005255531 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.(2058792_2058793) c.(895_894) p.V299fs RefSeq GRCh38/hg38
XM_011522637 chr16:g.(2058792_2058793) c.(895_894) p.V299fs 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