TSC2 V1067E
Gene Variant Detail

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Gene TSC2
Variant V1067E
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions TSC2 V1067E does not lie within any known functional domains of the Tsc2 protein (UniProt.org). V1067E results in increased mTORC1 activity and decreased Tsc2 expression compared to wild-type Tsc2 in culture (PMID: 29632054), and therefore, is predicted to lead to a loss of Tsc2 protein function.
Associated Drug Resistance
Category Variants Paths

TSC2 mutant TSC2 inact mut TSC2 V1067E

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Transcript NM_000548.5
gDNA chr16:g.2079344_2079345delTCinsAG
cDNA c.3200_3201delTCinsAG
Protein p.V1067E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000548 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
XM_011522636.2 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
XM_011522636.3 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
NM_000548.5 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
NM_001318832.2 chr16:g.2079571T>A c.3200T>A p.V1067E RefSeq GRCh38/hg38
NM_001318832 chr16:g.2079571T>A c.3200T>A p.V1067E RefSeq GRCh38/hg38
NM_001318832.1 chr16:g.2079571T>A c.3200T>A p.V1067E RefSeq GRCh38/hg38
NM_001114382 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
NM_000548.4 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
XM_011522636 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
NM_001114382.2 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38
NM_001114382.3 chr16:g.2079344_2079345delTCinsAG c.3200_3201delTCinsAG p.V1067E RefSeq GRCh38/hg38

Filtering

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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
TSC2 V1067E chromophobe renal cell carcinoma predicted - sensitive Temsirolimus Case Reports/Case Series Actionable In a clinical case study, Torisel (temsirolimus) treatment led to a complete response in metastatic sites and an 80% decrease in primary tumor size in a patient with chromophobe renal cell carcinoma harboring biallelic mutations, TSC2 splice site mutation and TSC2 V1067E (PMID: 29632054). 29632054