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Gene TSC2
Variant E1343D
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 E1343D does not lie within any known functional domains of the Tsc2 protein (UniProt.org). E1343D has not been characterized in the scientific literature and therefore, its effect on Tsc2 protein function is unknown (PubMed, Sep 2024).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 E1343D

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Transcript NM_000548.5
gDNA chr16:g.2084251G>C
cDNA c.4029G>C
Protein p.E1343D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001114382 chr16:g.2084320G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2084461G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2084251G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2084320G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2084251G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_000548 chr16:g.2084251G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2084254G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2084320G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2084254G>C c.4029G>C p.E1343D RefSeq GRCh38/hg38
XM_017023615 chr16:g.2084254G>C c.4029G>C p.E1343D 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries