Gene Variant Detail

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Gene TSC1
Variant N198_F199delinsI
Impact List indel
Protein Effect loss of function
Gene Variant Descriptions TSC1 N198_F199delinsI results in a deletion of an asparagine (N) and a phenylalanine (F) of the Tsc1 protein from amino acid 198 to 199, combined with the insertion of an isoleucine (I) at the same site (UniProt.org). N198_F199delinsI confers a loss of function on the Tsc1 protein as indicated by decreased Tsc1 expression and loss of mTOR pathway inhibition in cell culture (PMID: 18830229).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 N198_F199delinsI

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Transcript NM_000368.5
gDNA chr9:g.132921887_132921889delAGT
cDNA c.593_595delACT
Protein p.N198_F199delinsI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406605.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001162426 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_017015096 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_017015098 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_011518979 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_017015097 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_000368 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_005272211 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
XM_006717271 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132921887_132921889delAGT c.593_595delACT p.N198_F199delinsI 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References