TSC2 F615S
Gene Variant Detail

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Gene TSC2
Variant F615S
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 F615S does not lie within any known functional domains of the Tsc2 protein (UniProt.org). F615S activates Rheb GTPase to similar levels of wild-type Tsc2 (PMID: 15483652) but results in decreased suppression of S6k phosphorylation (PMID: 15483652, PMID: 21309039, PMID: 14993219), reduced Tsc2 stability (PMID: 21309039), altered chaperone function, decreased Tsc1 binding, and decreased Tsc2 phosphorylation in culture (PMID: 11741832).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 F615S

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Transcript NM_000548.5
gDNA chr16:g.2071514T>C
cDNA c.1844T>C
Protein p.F615S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2071514T>C c.1844T>C p.F615S RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2071514T>C c.1844T>C p.F615S 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries