TSC2 R611Q
Gene Variant Detail

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Gene TSC2
Variant R611Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 R611Q does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R611Q fails to inhibit Mtorc1 signaling in cultured cells (PMID: 31799751, PMID: 26703369, PMID: 18854862), and results in reduced interaction with Tsc1 in cultured cells (PMID: 26703369, PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 R611Q

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Transcript NM_000548.5
gDNA chr16:g.2070571G>A
cDNA c.1832G>A
Protein p.R611Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001363528.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2079579_2079580delAGinsCA c.1831_1832delAGinsCA p.R611Q RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2079579_2079580delAGinsCA c.1831_1832delAGinsCA p.R611Q RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2079579_2079580delAGinsCA c.1831_1832delAGinsCA p.R611Q RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2070571G>A c.1832G>A p.R611Q RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2079579_2079580delAGinsCA c.1831_1832delAGinsCA p.R611Q RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2070571G>A c.1832G>A p.R611Q 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