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Gene TSC2
Variant L369P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 L369P lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). L369P fails to inhibit mTorc1 activity as indicated by reduced inhibition of S6k phosphorylation and results in decreased binding to Tsc1 in cultured cells (PMID: 31799751).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 L369P

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Transcript NM_000548.5
gDNA chr16:g.2060800T>C
cDNA c.1106T>C
Protein p.L369P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522637.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2061913_2061914delTTinsCC c.1105_1106delTTinsCC p.L369P RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2060800T>C c.1106T>C p.L369P RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2060800T>C c.1106T>C p.L369P 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 L369P loss of function mTOR Inhibitor mTORC1 Inhibitor