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Gene TSC2
Variant S1798A
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 S1798A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1798A results in a loss of phosphorylation by Pim2 and subsequently, prevents Pim2 from relieving suppression of phosphorylated-S6RP compared to wild-type Tsc2 in in vitro assays (PMID: 23818547), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 S1798A

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Transcript NM_000548.5
gDNA chr16:g.2088578T>G
cDNA c.5392T>G
Protein p.S1798A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023615.1 chr16:g.2088581T>G c.5392T>G p.S1798A RefSeq GRCh38/hg38
XM_017023615 chr16:g.2088581T>G c.5392T>G p.S1798A RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2088578T>G c.5392T>G p.S1798A RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2088581T>G c.5392T>G p.S1798A RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088578T>G c.5392T>G p.S1798A RefSeq GRCh38/hg38
NM_000548 chr16:g.2088578T>G c.5392T>G p.S1798A RefSeq GRCh38/hg38

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries