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Gene TSC2
Variant E96*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 E96* results in a premature truncation of the Tsc2 protein at amino acid 96 of 1807 (UniProt.org). E96* has not been characterized however, due to the effects of other truncation mutations downstream of E96 (PMID: 22903760, PMID: 31454656), is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 E96*

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Transcript NM_000548.5
gDNA chr16:g.2053402G>T
cDNA c.286G>T
Protein p.E96*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024450413.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406673.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_005255529 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406690.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522637 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406692.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522636 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406695.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406693.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406663.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_017023618.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_017023618 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522640.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001370405.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_000548 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406697.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001077183.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406667.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001114382 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522639 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406671.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406696.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406664.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522637.3 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_017023615 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522640 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522639.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_005255529.4 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_021055.3 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406691.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406689.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406665.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001370404.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_017023616.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406668.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_005255531.4 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_017023615.1 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001406694.1 chr16:g.2065549G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522637.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001077183.3 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_005255531 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001363528.2 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_011522639.3 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
NM_001077183 chr16:g.2053402G>T c.286G>T p.E96* RefSeq GRCh38/hg38
XM_017023616 chr16:g.2053402G>T c.286G>T p.E96* 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
TSC2 E96* hepatocellular carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical study, a hepatocellular carcinoma patient harboring TSC2 E96* achieved stable disease following treatment with Afinitor (everolimus) (PMID: 30373752). 30373752