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Gene TSC2
Variant P1292A
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions TSC2 P1292A (corresponding to P1315A in the canonical isoform) does not lie within any known functional domains of the Tsc2 protein (UniProt.org). P1292A 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 P1292A

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Transcript NM_001114382.3
gDNA chr16:g.2083754C>G
cDNA c.3874C>G
Protein p.P1292A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406691.1 chr16:g.2088536C>G c.3874C>G p.P1292A RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2083754C>G c.3874C>G p.P1292A RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2083754C>G c.3874C>G p.P1292A RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2088473C>G c.3874C>G p.P1292A RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2084294C>G c.3874C>G p.P1292A RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2084354C>G c.3874C>G p.P1292A RefSeq GRCh38/hg38

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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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References