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Gene TSC1
Variant Q830*
Impact List nonsense
Protein Effect unknown
Gene Variant Descriptions TSC1 Q830* results in a premature truncation of the Tsc1 protein at amino acid 830 of 1164 (UniProt.org). Q830* has been identified in the scientific literature (PMID: 32984035; PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 Q830*

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Transcript NM_000368.5
gDNA chr9:g.132901603G>A
cDNA c.2488C>T
Protein p.Q830*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406619.1 chr9:g.132897308G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132900810G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132900810G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.132897308G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132900810G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.132897308G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.132897308G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132901603G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.132897308G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.132897308G>A c.2488C>T p.Q830* RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.132897308G>A c.2488C>T p.Q830* 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries