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Gene TSC2
Variant N525S
Impact List missense
Protein Effect no effect
Gene Variant Descriptions TSC2 N525S does not lie within any known functional domains of the Tsc2 protein (UniProt.org). N525S results in phosphorylation by Pkb, Tsc2 and S6 phosphorylation, Tsc1 binding, Rheb GTPase activity (PMID: 15483652), chaperone function, and Tsc1 subcellular localization similar to wild-type Tsc2 in culture (PMID: 11741832).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 N525S

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Transcript NM_000548.5
gDNA chr16:g.2064402A>G
cDNA c.1574A>G
Protein p.N525S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406696.1 chr16:g.2079115A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2079115A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2079115A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2079115A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2064402A>G c.1574A>G p.N525S RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2064402A>G c.1574A>G p.N525S 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References