Results for the protein: NP

Results for the Protein: NP_001188331

319655720

2581

GALC

NCBI

galactocerebrosidase isoform d [Homo sapiens]

Known Diseases associated with this Protein:
KRABBE DISEASE

7

5

7

5

0

Tips:

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Default View: Glyco_hydro_59 - pfam02057	RefSeq Protein: NP_001188331 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs73312836	Polymorphism	p.ALA17THR	N/A
dbSNP	rs1805078	Polymorphism	p.ARG158CYS	N/A
dbSNP	rs34362748	Polymorphism	p.ASP222ASN	N/A
dbSNP	rs398607	Polymorphism	p.ILE536THR	N/A
dbSNP	rs421262	Polymorphism	p.THR615ALA	N/A
OMIM	606890.0003	Disease	p.ASP518ASN	KRABBE DISEASE
OMIM	606890.0001	Disease	p.GLU359TER	KRABBE DISEASE
OMIM	606890.0005	Disease	p.GLY527ARG	KRABBE DISEASE
OMIM	606890.0008	Disease	p.GLY260ASP	KRABBE DISEASE
OMIM	606890.0010	Disease	p.GLY1SER	KRABBE DISEASE
OMIM	606890.0004	Disease	p.ILE573SER	KRABBE DISEASE
OMIM	606890.0009	Disease	p.PRO292ARG	KRABBE DISEASE

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