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Gene TSC2
Variant R1329P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 R1329P does not lie within any known functional domains of the Tsc2 protein (UniProt.org). R1329P has been identified in sequencing studies (J Thorac Oncol. Vol 13, Issue 10, S512-S513), but has not been biochemically characterized and therefore, its effect on Tsc2 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 R1329P

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Transcript NM_000548.5
gDNA chr16:g.2083797G>C
cDNA c.3986G>C
Protein p.R1329P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.5 chr16:g.2083797G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38
NM_000548 chr16:g.2083797G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2084285_2084286delAGinsCC c.3985_3986delAGinsCC p.R1329P RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2084285_2084286delAGinsCC c.3985_3986delAGinsCC p.R1329P RefSeq GRCh38/hg38
NM_001406680.1 chr16:g.2085246G>C c.3986G>C p.R1329P RefSeq GRCh38/hg38
XM_011522640 chr16:g.2084285_2084286delAGinsCC c.3985_3986delAGinsCC p.R1329P RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2083797G>C c.3986G>C p.R1329P 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