Results for the protein: Q9NQG7

Results for the Protein: Q9NQG7

21362617

89781

HPS4

NCBI, UniProt

HPS4_HUMAN RecName: Full=Hermansky-Pudlak syndrome 4 protein; AltName: Full=Light-ear protein homolog

Known Diseases associated with this Protein:
HERMANSKY-PUDLAK SYNDROME 4

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Default View:	Swiss-Prot Protein: Q9NQG7 Identical to: NP_071364 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs77597168	Polymorphism	p.ALA237VAL	N/A
dbSNP	rs1894704	Polymorphism	p.GLN625HIS	N/A
dbSNP	rs713998	Polymorphism	p.GLU229GLY	N/A
dbSNP	rs1894706	Polymorphism	p.HIS606TYR	N/A
dbSNP	rs2014410	Polymorphism	p.LEU443VAL	N/A
dbSNP	rs5752330	Polymorphism	p.VAL552MET	N/A
OMIM	606682.0006	Disease	p.ARG217TER	HERMANSKY-PUDLAK SYNDROME 4
OMIM	606682.0004	Disease	p.GLN181TER	HERMANSKY-PUDLAK SYNDROME 4
OMIM	606682.0001	Disease	p.GLN631TER	HERMANSKY-PUDLAK SYNDROME 4
OMIM	606682.0007	Disease	p.GLU138TER	HERMANSKY-PUDLAK SYNDROME 4
OMIM	606682.0008	Disease	p.GLU222TER	HERMANSKY-PUDLAK SYNDROME 4

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