Gene Variant Detail

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Gene TSC1
Variant R246K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 R246K does not lie within any known functional domains of the Tsc1 protein (UniProt.org). R246K demonstrates protein stability and mTOR pathway inhibition similar to wild-type Tsc1 in culture, however, the nucleotide change occurs at a splice site and is predicted to result in an RNA splicing defect (PMID: 18830229), and therefore, its effect on Tsc1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 R246K

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Transcript NM_000368.5
gDNA chr9:g.132921363C>T
cDNA c.737G>A
Protein p.R246K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000368.4 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_017015096 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_011518979 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_017015097 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_005272211 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_000368 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_017015098 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_006717271 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001162426 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_011518979.3 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132921363C>T c.737G>A p.R246K RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132921363C>T c.737G>A p.R246K 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