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Gene TSC2
Variant R1795C
Impact List missense
Protein Effect no effect
Gene Variant Descriptions TSC2 R1795C (corresponding to R1772C in isoform 4) does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R1795C demonstrates activity similar to wild-type Tsc2 in in vitro assays (PMID: 21309039, PMID: 18302728).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R1795C

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Transcript NM_000548.5
gDNA chr16:g.2088569C>T
cDNA c.5383C>T
Protein p.R1795C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548 chr16:g.2088569C>T c.5383C>T p.R1795C RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2088569C>T c.5383C>T p.R1795C RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088569C>T c.5383C>T p.R1795C 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