Results for the protein: NP

Results for the Protein: NP_000144

83281450

2581

GALC

NCBI

galactocerebrosidase isoform a precursor [Homo sapiens]

Known Diseases associated with this Protein:
KRABBE DISEASE

7

4

7

4

0

Tips:

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Default View: COG5520 - COG5520 Glyco_hydro_59 - pfam02057	RefSeq Protein: NP_000144 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Glyco_hydro_59	pfam02057		17	685

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1805078	Polymorphism	p.ARG184CYS	N/A
dbSNP	rs34362748	Polymorphism	p.ASP248ASN	N/A
dbSNP	rs398607	Polymorphism	p.ILE562THR	N/A
dbSNP	rs421262	Polymorphism	p.THR641ALA	N/A
OMIM	606890.0003	Disease	p.ASP544ASN	KRABBE DISEASE
OMIM	606890.0001	Disease	p.GLU385TER	KRABBE DISEASE
OMIM	606890.0005	Disease	p.GLY553ARG	KRABBE DISEASE
OMIM	606890.0008	Disease	p.GLY286ASP	KRABBE DISEASE
OMIM	606890.0010	Disease	p.GLY41SER	KRABBE DISEASE
OMIM	606890.0004	Disease	p.ILE599SER	KRABBE DISEASE
OMIM	606890.0009	Disease	p.PRO318ARG	KRABBE DISEASE

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