Results for the protein: Q92902

Results for the Protein: Q92902

68067891

3257

HPS1

NCBI, UniProt

HPS1_HUMAN RecName: Full=Hermansky-Pudlak syndrome 1 protein

Known Diseases associated with this Protein:
HERMANSKY-PUDLAK SYNDROME 1

2

7

2

3

4

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Default View:	Swiss-Prot Protein: Q92902 Identical to: NP_000186 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_038378	Polymorphism	p.ALA480THR	N/A
Swiss-Prot	VAR_014888	Polymorphism	p.ALA186VAL	N/A
dbSNP	rs2296436	Polymorphism	p.GLN603ARG	N/A
Swiss-Prot	VAR_014887	Polymorphism	p.GLU100ASP	N/A
dbSNP	rs11592273	Polymorphism	p.GLY283TRP	N/A
dbSNP	rs2296434	Polymorphism	p.PRO491ARG	N/A
Swiss-Prot	VAR_005293	Polymorphism	p.VAL630ILE	N/A
OMIM	604982.0005	Disease	p.GLU133TER	HERMANSKY-PUDLAK SYNDROME 1
OMIM	604982.0003	Disease	p.GLU666TER	HERMANSKY-PUDLAK SYNDROME 1

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