Results for the protein: Q9UHC9

Results for the Protein: Q9UHC9

425906049

29881

NPC1L1

NCBI, UniProt

NPCL1_HUMAN RecName: Full=Niemann-Pick C1-like protein 1; Flags: Precursor

Known Diseases associated with this Protein:
EZETIMIBE, NONRESPONSE TO

2

7

2

3

4

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Patched - pfam02460 Sterol-sensing - pfam12349	Swiss-Prot Protein: Q9UHC9 Identical to: NP_037521 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sterol-sensing	pfam12349	3.2e-74	661	815

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs79803700	Polymorphism	p.ALA310SER	N/A
dbSNP	rs76327525	Polymorphism	p.ASN387SER	N/A
Swiss-Prot	VAR_056660	Polymorphism	p.GLU1308LYS	N/A
Swiss-Prot	VAR_023370	Polymorphism	p.ILE1233ASN	N/A
Swiss-Prot	VAR_056659	Polymorphism	p.MET510ILE	N/A
dbSNP	rs185121858	Polymorphism	p.THR323PRO	N/A
Swiss-Prot	VAR_023369	Polymorphism	p.VAL55LEU	N/A
OMIM	608010.0002	Disease	p.ILE1233ASN	EZETIMIBE, NONRESPONSE TO
OMIM	608010.0001	Disease	p.VAL55LEU	EZETIMIBE, NONRESPONSE TO

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258