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Gene TSC2
Variant S1420A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S1420A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). S1420A results in phosphorylated Tsc2 levels similar to wild-type protein in cell culture (PMID: 23818547), but has not been fully biochemically characterized and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S1420A

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Transcript NM_000548.5
gDNA chr16:g.2084480T>G
cDNA c.4258T>G
Protein p.S1420A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017023616 chr16:g.2084612T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2084480T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2084612T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2084480T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_001077183 chr16:g.2084681T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2084681T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2085230T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_000548 chr16:g.2084480T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2084612T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2084681T>G c.4258T>G p.S1420A RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2084681T>G c.4258T>G p.S1420A 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.
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries