Gene dossier

PTCH1

420 mutation records across 8 cancer labels and 3 source families.

0 actionable0 hotspotsNot reported

Top records

Prioritized variant evidence

Variant	Cancer	Evidence	Frequency	Sources
PTCH1 p.L775M substitution	CHOL	Likely Driver	2.8%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.D301N substitution	CHOL	Likely Driver	2.8%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.N388K substitution	DLBCLNOS	Likely Driver	2.4%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.G545* substitution	UCS	Likely Driver	1.8%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.E212* substitution	UCS	Likely Driver	1.8%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.S1203Afs*52 frameshift	UCEC	Likely Driver	1.4%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.E836G substitution	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.X535_splice splice	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.MUTATED splice	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.Q1020Sfs*29 frameshift	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.Q576* substitution	PLMESO	Likely Driver	1.2%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.C727Vfs*19 frameshift	ACC	Likely Driver	1.1%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.W197R substitution	ACC	Likely Driver	1.1%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 p.S1203Afs*52 frameshift	ESCA	Likely Driver	1.1%	cBioPortal, TCGA Pan-Cancer Atlas
PTCH1 ClinVar:8219 substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Arg1114Trp substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Arg1114Trp substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Ala393Thr substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Ala393Thr substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Thr728Met substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Thr728Met substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Ser827Gly substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Ser827Gly substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Thr1052Met substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Thr1052Met substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Tyr1316Cys substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Tyr1316Cys substitution	UNSPEC	Driver	Not reported	ClinVar
PTCH1 p.Arg1297Trp substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Arg1297Trp substitution	UNSPEC	VUS	Not reported	ClinVar
PTCH1 p.Val1081Met substitution	UNSPEC	Driver	Not reported	ClinVar