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Gene TSC2
Variant R1200P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 R1200P does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R1200P results in decreased mTorc1 inhibition (PMID: 29308833), 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 R1200P

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Transcript NM_000548.5
gDNA chr16:g.2080366G>C
cDNA c.3599G>C
Protein p.R1200P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.3 chr16:g.2080366G>C c.3599G>C p.R1200P RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2080366G>C c.3599G>C p.R1200P RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2080368_2080369delAGinsCC c.3598_3599delAGinsCC p.R1200P RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2080366G>C c.3599G>C p.R1200P RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2080366G>C c.3599G>C p.R1200P RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2080366G>C c.3599G>C p.R1200P RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2080368_2080369delAGinsCC c.3598_3599delAGinsCC p.R1200P RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2080366G>C c.3599G>C p.R1200P RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2080368_2080369delAGinsCC c.3598_3599delAGinsCC p.R1200P 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

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Molecular Profile Protein Effect Treatment Approaches
TSC2 R1200P loss of function - predicted mTOR Inhibitor mTORC1 Inhibitor