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Gene TSC2
Variant V769E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 V769E does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V769E confers a loss of function to Tsc2 as demonstrated by decreased Tsc2 phosphorylation and Tsc1 binding in cultured cells (PMID: 11741832), decreased suppression of S6k phosphorylation (PMID: 15483652, PMID: 21309039), failure to stimulate Rheb GTPase activity (PMID; 15483652), and reduced Tsc2 stability in culture (PMID: 21309039).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 V769E

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Transcript NM_000548.5
gDNA chr16:g.2072934T>A
cDNA c.2306T>A
Protein p.V769E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406665.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001406670.1 chr16:g.2074261T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001406678.1 chr16:g.2074261T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_011522638.3 chr16:g.2074261T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2074261T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2072934T>A c.2306T>A p.V769E RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2072934T>A c.2306T>A p.V769E 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References