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Gene TSC2
Variant D1512A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 D1512A (corresponding to D1535A in the canonical isoform) lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). D1512A results in a loss of Tsc2 protein function as indicated by increased phosphorylation of S6k in cultured cells (PMID: 18854862, PMID: 37311496).
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 D1512A

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Transcript NM_000548.5
gDNA chr16:g.2084992A>C
cDNA c.4535A>C
Protein p.D1512A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548.4 chr16:g.2084992A>C c.4535A>C p.D1512A RefSeq GRCh38/hg38
NM_001406677.1 chr16:g.2086323A>C c.4535A>C p.D1512A RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2085264A>C c.4535A>C p.D1512A RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2084992A>C c.4535A>C p.D1512A RefSeq GRCh38/hg38

Filtering

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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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  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
TSC2 D1512A loss of function mTOR Inhibitor mTORC1 Inhibitor