TSC2 G1544V
Gene Variant Detail

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Gene TSC2
Variant G1544V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions TSC2 G1544V (corresponding to G1567V in the canonical isoform) lies within the Rap-GAP domain of the Tsc2 protein (UniProt.org). G1544V 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 G1544V

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Transcript NM_001114382.3
gDNA chr16:g.2086230G>T
cDNA c.4631G>T
Protein p.G1544V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406670.1 chr16:g.2086341G>T c.4631G>T p.G1544V RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2086230G>T c.4631G>T p.G1544V RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2086230G>T c.4631G>T p.G1544V RefSeq GRCh38/hg38
NM_001406679.1 chr16:g.2086861G>T c.4631G>T p.G1544V RefSeq GRCh38/hg38

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