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Gene TSC2
Variant P28fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 P28fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 28 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). P28fs has not been characterized however, due to the effects of other truncation mutations downstream of P28 (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 P28fs

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Transcript NM_000548.5
gDNA chr16:g.(2048696_2048697)
cDNA c.(82_81)
Protein p.P28fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406665.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_021055.3 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.(2048696_2048697) c.(82_81) p.P28fs RefSeq GRCh38/hg38

Filtering

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  • 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