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Gene TSC2
Variant S939A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 S939A does not lie within any known functional domains of the Tsc2 protein (UniProt.org). The functional effect of S939A is conflicting, as it results in Tsc2 phosphorylation levels, GAP activity towards Rheb, and binding to 14-3-3 and Hamartin similar to wild-type Tsc2 in vitro, however, also demonstrates altered cellular localization, reduced S6k phosphorylation, increased mitotic cell number (PMID: 23818547, PMID: 16636147, PMID: 12582162, PMID: 30629673), diminished binding to 14-3-3 (PMID: 20412061), and loss of phosphorylation and activation of Mtorc1 upon translation inhibition (PMID: 30684133), and therefore, its effect on Tsc2 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 S939A

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Transcript NM_000548.5
gDNA chr16:g.2076563_2076564delAGinsGC
cDNA c.2815_2816delAGinsGC
Protein p.S939A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406696.1 chr16:g.2084582_2084583delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522639 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001114382 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2084582_2084583delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001077183 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_000548 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_024450413.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2084513T>G c.2815T>G p.S939A RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522636 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_017023616 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522640 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2079069T>G c.2815T>G p.S939A RefSeq GRCh38/hg38
XM_011522637 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_005255531 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_017023615 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2084582_2084583delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_005255529 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2076563_2076564delAGinsGC c.2815_2816delAGinsGC p.S939A 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")

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