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Gene TSC2
Variant V1547I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 V1547I lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). V1547I results in decreased GAP activity of Tsc2 and increased phosphorylation of S6K in cell culture (PMID: 28215400).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 V1547I

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Transcript NM_000548.5
gDNA chr16:g.2085299G>A
cDNA c.4639G>A
Protein p.V1547I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548 chr16:g.2085299G>A c.4639G>A p.V1547I RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2085299G>A c.4639G>A p.V1547I RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2086734G>A c.4639G>A p.V1547I RefSeq GRCh38/hg38
XM_011522638 chr16:g.2084645G>A c.4639G>A p.V1547I RefSeq GRCh38/hg38
XM_011522638.2 chr16:g.2084645G>A c.4639G>A p.V1547I RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2085299G>A c.4639G>A p.V1547I 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 V1547I loss of function mTOR Inhibitor mTORC1 Inhibitor