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Gene TSC1
Variant S35C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC1 S35C does not lie within any known functional domains of the Tsc1 protein (UniProt.org). S35C results in interaction with Tsc2 and subcellular localization similar to wild-type Tsc1 and attenuates mTor signaling in culture, however, the genomic change may lead to aberrant splicing (PMID: 18397877), and therefore, its effect on Tsc1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC1 mutant TSC1 S35C

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Transcript NM_000368.5
gDNA chr9:g.132928769G>C
cDNA c.104C>G
Protein p.S35C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011518979.3 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
XM_005272211.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406597.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406612.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406608.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406602.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
XM_017015097.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406595.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_000368.4 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
XM_006717271.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406606.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406596.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406603.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001162426.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406607.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406594.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406592.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406598.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
XM_017015096.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406599.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406609.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001162427.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406600.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
XM_011518979.2 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406604.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001162426.2 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406613.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406593.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_000368.5 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406611.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406601.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406605.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
XM_017015098.1 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001162427.2 chr9:g.132928769G>C c.104C>G p.S35C RefSeq GRCh38/hg38
NM_001406610.1 chr9:g.132928769G>C c.104C>G p.S35C 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