Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene TSC1
Variant S1043del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions TSC1 S1043del results in the deletion of an amino acid of the Tsc1 protein at amino acid 1043 (UniProt.org). S1043del has been identified in the scientific literature (PMID: 30429033, PMID: 35884384, PMID: 37901334), 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 S1043del

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.

Transcript NM_000368.5
gDNA chr9:g.132896618_132896620delTGC
cDNA c.3127_3129delAGC
Protein p.S1043del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406615.1 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406617.1 chr9:g.132896239_132896241delCTG c.3127_3129delAGC p.S1043del RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132896618_132896620delTGC c.3127_3129delAGC p.S1043del 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.

Molecular Profile Protein Effect Treatment Approaches
TSC1 S1043del unknown