Gene Variant Detail

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Gene TSC1
Variant L117P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC1 L117P does not lie within any known functional domains of the Tsc1 protein (UniProt.org). L117P confers a loss of function on the Tsc1 protein as indicated by decreased Tsc1 protein expression and loss of mTOR pathway inhibition in cell culture (PMID: 18830229).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 inact mut TSC1 L117P

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Transcript NM_000368.5
gDNA chr9:g.132925600A>G
cDNA c.350T>C
Protein p.L117P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001162426 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_006717271 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_017015097 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_005272211 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_017015096 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_017015098 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_000368 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132925600A>G c.350T>C p.L117P RefSeq GRCh38/hg38
XM_011518979 chr9:g.132925600A>G c.350T>C p.L117P 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