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Gene TSC2
Variant H1617Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 H1617Y (corresponding to H1640Y in the canonical isoform) lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). H1617Y results in the loss of repression of Mtorc1 as indicated by assays that demonstrate increased phosphorylation of S6k in cultured cells (PMID: 18854862).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 H1617Y

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Transcript NM_001114382.3
gDNA chr16:g.2086800C>T
cDNA c.4849C>T
Protein p.H1617Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382.2 chr16:g.2086800C>T c.4849C>T p.H1617Y RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2086800C>T c.4849C>T p.H1617Y 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")

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Molecular Profile Protein Effect Treatment Approaches
TSC2 H1617Y loss of function mTOR Inhibitor mTORC1 Inhibitor