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Gene TSC2
Variant R905Q
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 R905Q does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R905Q results in chaperone function, Tsc2 phosphorylation, Tsc1 binding, and Tsc1 subcellular localization similar to wild-type Tsc2 (PMID: 11741832) but results in decreased suppression of S6k phosphorylation (PMID: 15483652, PMID: 21309039), failure to activate Rheb GTPase activity (PMID: 15483652), and decreased Tsc2 stability in culture (PMID: 16464865, PMID: 21309039), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 R905Q

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Transcript NM_000548.5
gDNA chr16:g.2076142G>A
cDNA c.2714G>A
Protein p.R905Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522639.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2076142G>A c.2714G>A p.R905Q RefSeq GRCh38/hg38

Filtering

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  • 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