TSC2 R1743W
Gene Variant Detail

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Gene TSC2
Variant R1743W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 R1743W lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). R1743W results in the loss of repression of mTORC1 as demonstrated by increased phosphorylation of S6K1 and 4E-BP1, reduced intrinsic GTPase activity, and PEX5 association and peroxisomal localization compared to wild-type Tsc2 protein in in-vitro assays (PMID: 23955302).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 R1743W

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Transcript NM_000548.5
gDNA chr16:g.2088293C>T
cDNA c.5227C>T
Protein p.R1743W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2088293C>T c.5227C>T p.R1743W RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2088293C>T c.5227C>T p.R1743W RefSeq GRCh38/hg38
NM_000548 chr16:g.2088293C>T c.5227C>T p.R1743W 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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References