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Gene TSC2
Variant E652fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 E652fs results in a change in the amino acid sequence of the Tsc2 protein beginning at aa 652 of 1807, likely resulting in premature truncation of the functional protein (UniProt.org). E652fs has not been characterized however, due to the effects of other truncation mutations downstream of E652 (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 E652fs

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Transcript NM_000548.5
gDNA chr16:g.(2071790_2071791)
cDNA c.(1954_1953)
Protein p.E652fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636.3 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.(2071802_2071803) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.(2071802_2071803) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_021055.3 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_000548 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_000548.4 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_017023616 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_005255531 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522637 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_005255529 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_000548.5 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_017023615 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001114382 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522640 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001077183 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522636 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
XM_011522639 chr16:g.(2071790_2071791) c.(1954_1953) p.E652fs RefSeq GRCh38/hg38
NM_001406698.1 chr16:g.(2081671_2081672) c.(1954_1953) p.E652fs 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 E652fs loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor