Results for the protein: Q9Y6C5

Results for the Protein: Q9Y6C5

12643356

8643

PTCH2

NCBI, UniProt

PTC2_HUMAN RecName: Full=Protein patched homolog 2; Short=PTC2

Known Diseases associated with this Protein:
BASAL CELL NEVUS SYNDROME

1

7

1

1

6

Tips:

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Default View: Sterol-sensing - pfam12349	Swiss-Prot Protein: Q9Y6C5 Identical to: NP_003729 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_018935	Polymorphism	p.GLU346GLN	N/A
Swiss-Prot	VAR_018936	Polymorphism	p.GLU493LYS	N/A
Swiss-Prot	VAR_018937	Polymorphism	p.HIS622TYR	N/A
Swiss-Prot	VAR_018940	Polymorphism	p.ILE1121MET	N/A
dbSNP	rs11573590	Polymorphism	p.THR988MET	N/A
Swiss-Prot	VAR_018939	Polymorphism	p.VAL1019MET	N/A
Swiss-Prot	VAR_050466	Polymorphism	p.VAL995MET	N/A
OMIM	603673.0003	Disease	p.ARG719GLN	BASAL CELL NEVUS SYNDROME

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