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Gene TSC2
Variant S1410L
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions TSC2 S1410L (corresponds to S1433L in the canonical isoform) does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1410L results in Tsc1, Tsc2, and S6k expression (PMID: 21309039) and inhibition of S6k phosphorylation similar to wild-type Tsc2 in cell culture (PMID: 18854862), and therefore, is predicted to have no effect on Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1410L

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Transcript NM_001114382.3
gDNA chr16:g.2084520C>T
cDNA c.4229C>T
Protein p.S1410L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.2 chr16:g.2084520C>T c.4229C>T p.S1410L RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2084561_2084562delTCinsCT c.4228_4229delTCinsCT p.S1410L RefSeq GRCh38/hg38
NM_001406675.1 chr16:g.2084666_2084667delAGinsCT c.4228_4229delAGinsCT p.S1410L RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2084619C>T c.4229C>T p.S1410L RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2084582_2084583delAGinsCT c.4228_4229delAGinsCT p.S1410L RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2084998C>T c.4229C>T p.S1410L RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2084520C>T c.4229C>T p.S1410L RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2084453_2084454delAGinsCT c.4228_4229delAGinsCT p.S1410L RefSeq GRCh38/hg38
NM_001406679.1 chr16:g.2085236_2085237delTCinsCT c.4228_4229delTCinsCT p.S1410L RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Protein Effect Treatment Approaches
TSC2 S1410L no effect - predicted