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Gene TSC1
Variant S1043fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions TSC1 S1043fs results in a change in the amino acid sequence of the Tsc1 protein beginning at aa 1043 of 1164, likely resulting in premature truncation of the functional protein (UniProt.org). S1043fs has been identified in the scientific literature (PMID: 31978326, PMID: 35085982), 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 S1043fs

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Transcript NM_000368.5
gDNA chr9:g.(132896603_132896604)
cDNA c.(3127_3126)
Protein p.S1043fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015100.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015097 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015096 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_000368 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_006717271 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_005272211 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_000368.5 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015099 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_017015100 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_011518979 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.(132896240_132896241) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38
NM_000368.4 chr9:g.(132896603_132896604) c.(3127_3126) p.S1043fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries