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Gene TSC2
Variant V1646G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 V1646G lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). R1646G results in destabilization of the Tsc2 protein in an in vitro assay and fails to inhibit mTorc1 signaling in cultured cells (PMID: 32502382), and therefore, results in a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 V1646G

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Transcript NM_000548.5
gDNA chr16:g.2086819T>G
cDNA c.4937T>G
Protein p.V1646G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2086819T>G c.4937T>G p.V1646G RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2087921T>G c.4937T>G p.V1646G RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2087885T>G c.4937T>G p.V1646G RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2086819T>G c.4937T>G p.V1646G RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2087879T>G c.4937T>G p.V1646G RefSeq GRCh38/hg38

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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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References