Gene Variant Detail

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Gene TSC1
Variant K82T
Impact List missense
Protein Effect no effect
Gene Variant Descriptions TSC1 K82T does not lie within any known functional domains of the Tsc1 protein (UniProt.org). K82T demonstrates protein stability and mTOR pathway inhibition similar to wild-type Tsc1 in cell culture (PMID: 21309039).
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 K82T

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Transcript NM_000368.5
gDNA chr9:g.132925705T>G
cDNA c.245A>C
Protein p.K82T
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406601.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_017015098 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_006717271 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_005272211 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_017015096 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_000368 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_011518979 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_017015097 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001162426 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132925705T>G c.245A>C p.K82T RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132925705T>G c.245A>C p.K82T 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