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Gene TSC2
Variant K347Efs*36
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 K347Efs*36 indicates a shift in the reading frame starting at amino acid 347 and terminating 36 residues downstream causing a premature truncation of the 1807 amino acid Tsc2 protein (UniProt.org). K347Efs*36 results in increased phosphorylation of S6k1 and Stat3 in cultured cells (PMID: 31454656), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 K347Efs*36

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Transcript NM_000548.5
gDNA chr16:g.(2060733_2061900)
cDNA c.(1039_1149)
Protein p.K347Efs*36
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406665.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_021055.3 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001114382 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_005255529 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001077183 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522637 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522636 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2060744dupG c.1038dupG p.K347Efs*36 RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_000548 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522639 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522640 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_017023616 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_017023615 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_005255531 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2060744dupG c.1038dupG p.K347Efs*36 RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.(2060733_2061900) c.(1039_1149) p.K347Efs*36 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 Protein Effect Treatment Approaches
TSC2 K347Efs*36 loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor