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Gene TSC1
Variant P1143L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 P1143L does not lie within any known functional domains of the Tsc1 protein (UniProt.org). P1143L has been identified in sequencing studies (PMID: 27023146, PMID: 19789314), but has not been biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Jul 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 P1143L

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Transcript NM_000368.5
gDNA chr9:g.132896302G>A
cDNA c.3428C>T
Protein p.P1143L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015097.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_006717271 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_017015097 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_005272211 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_017015096 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_011518979 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132896302G>A c.3428C>T p.P1143L RefSeq GRCh38/hg38
NM_000368 chr9:g.132896302G>A c.3428C>T p.P1143L 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 P1143L unknown