Gene Variant Detail

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Gene TSC2
Variant T1462A
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions TSC2 T1462A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). T1462A results in Tsc2 phosphorylation, binding to 14-3-3, and cellular localization similar to wild-type Tsc2 in culture (PMID: 23818547, PMID: 16636147, PMID: 20412061), and therefore, is predicted to have no effect on Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 T1462A

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Transcript NM_000548.5
gDNA chr16:g.2084606A>G
cDNA c.4384A>G
Protein p.T1462A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548 chr16:g.2084606A>G c.4384A>G p.T1462A RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2084606A>G c.4384A>G p.T1462A RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2084606A>G c.4384A>G p.T1462A RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2084675A>G c.4384A>G p.T1462A RefSeq GRCh38/hg38
NM_001114382 chr16:g.2084675A>G c.4384A>G p.T1462A RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2084675A>G c.4384A>G p.T1462A RefSeq GRCh38/hg38

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  • 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")

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