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Gene TSC2
Variant R308W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 R308W lies within the TSC1-interacting region of the Tsc2 protein (UniProt.org). R308W fails to inhibit Mtorc1 activity as indicated by reduced inhibition of S6k phosphorylation and results in decreased interaction with Tsc1 in cultured cells (PMID: 31799751).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 R308W

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Transcript NM_000548.5
gDNA chr16:g.2058820C>T
cDNA c.922C>T
Protein p.R308W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001406681.1 chr16:g.2062994_2062996delCGCinsTGG c.922_924delCGCinsTGG p.R308W RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2058820C>T c.922C>T p.R308W RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2058820C>T c.922C>T p.R308W 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 Protein Effect Treatment Approaches
TSC2 R308W loss of function mTOR Inhibitor mTORC1 Inhibitor