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Gene TSC2
Variant D1004N
Impact List missense
Protein Effect unknown
Gene Variant Descriptions TSC2 D1004N does not lie within any known functional domains of the Tsc2 protein (UniProt.org). D1004N 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 D1004N

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Transcript NM_000548.5
gDNA chr16:g.2079075G>A
cDNA c.3010G>A
Protein p.D1004N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011522636.3 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_001318827.2 chr16:g.2079394G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_001318827.1 chr16:g.2079394G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_000548 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079075G>A c.3010G>A p.D1004N RefSeq GRCh38/hg38
NM_001318827 chr16:g.2079394G>A c.3010G>A p.D1004N 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References