Gene dossier

TSC1

262 mutation records across 5 cancer labels and 4 source families.

0 actionable1 hotspotsPI3K-AKT

Top records

Prioritized variant evidence

Variant	Cancer	Evidence	Frequency	Sources
TSC1 p.S361A substitution	CHOL	Likely Driver	2.8%	cBioPortal, TCGA Pan-Cancer Atlas
TSC1 p.D239G substitution	UCS	Likely Driver	1.8%	cBioPortal, TCGA Pan-Cancer Atlas
TSC1 p.E174Sfs*32 frameshift	CHRCC	Likely Driver	1.5%	cBioPortal, TCGA Pan-Cancer Atlas
TSC1 p.R718Pfs*3 frameshift	CHRCC	Likely Driver	1.5%	cBioPortal, TCGA Pan-Cancer Atlas
TSC1 p.H1160Y substitution	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
TSC1 p.X797sp inframe	Not reported	DriverHotspot	Not reported	Cancer Hotspots
TSC1 p.Thr635fs Microsatellite	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Thr635fs Microsatellite	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Cys165Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Cys165Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 c.1029+1G>A substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 c.1029+1G>A substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Trp347Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Trp347Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg420fs deletion	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg420fs deletion	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg424fs Microsatellite	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg424fs Microsatellite	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Glu478fs deletion	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Glu478fs deletion	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg500Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg500Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg509Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg509Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Gln527Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Gln527Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Gln55Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Gln55Ter substitution	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg570fs deletion	UNSPEC	Driver	Not reported	ClinVar
TSC1 p.Arg570fs deletion	UNSPEC	Driver	Not reported	ClinVar