TSC2 H1718P
Gene Variant Detail

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Gene TSC2
Variant H1718P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 H1718P lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). H1718P confers a loss of function to the Tsc2 protein as indicated by increased Ofd1 and p62 expression associated with decreased autophagy, and reduced ciliogenesis in patient samples (PMID: 29937275).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 H1718P

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Transcript NM_000548.5
gDNA chr16:g.2088132A>C
cDNA c.5153A>C
Protein p.H1718P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2088132A>C c.5153A>C p.H1718P RefSeq GRCh38/hg38
NM_000548 chr16:g.2088132A>C c.5153A>C p.H1718P RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2088132A>C c.5153A>C p.H1718P 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries