Gene Variant Detail

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Gene TSC1
Variant S1043dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions TSC1 S1043dup indicates the insertion of the duplicate amino acid, serine (S)-1043, in the Tsc1 protein (UniProt.org). S1043dup results in reduced protein stability (PMID: 34739309), but has not been fully biochemically characterized and therefore, its effect on Tsc1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 S1043dup

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Transcript NM_000368.5
gDNA chr9:g.132896601_132896603
cDNA c.3127_3129
Protein p.S1043
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406617.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406615.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_005272211 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406618.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015097 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406619.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015100.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_011518979 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_006717271 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_000368 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406614.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406616.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001362177.2 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015099 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015099.1 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132896601_132896603 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015100 chr9:g.132896238_132896240 c.3127_3129 p.S1043 RefSeq GRCh38/hg38
XM_017015096 chr9:g.132896601_132896603 c.3127_3129 p.S1043 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References